ClinVar

NM_000517.6(HBA2):c.383A>C (p.Lys128Thr)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 173554 (on Assembly GRCh38)
• Chr16: 223553 (on Assembly GRCh37)

Preferred name:

NM_000517.6(HBA2):c.383A>C (p.Lys128Thr)

HGVS:

• NC_000016.10:g.173554A>C
• NG_000006.1:g.34417A>C
• NG_046165.1:g.3293A>C
• NG_059186.1:g.1904A>C
• NG_059271.1:g.5708A>C
• NM_000517.6:c.383A>CMANE SELECT
• NP_000508.1:p.Lys128Thr
• LRG_1240t1:c.383A>C
• LRG_1225:g.1904A>C
• LRG_1240:g.5708A>C
• LRG_1240p1:p.Lys128Thr
• NC_000016.9:g.223553A>C

This HGVS expression did not pass validation

Protein change:

K128T

Links:

dbSNP: rs35431217

NCBI 1000 Genomes Browser:

rs35431217

Molecular consequence:

• NM_000517.6:c.383A>C - missense variant - [Sequence Ontology: SO:0001583]