ClinVar

NM_003742.4(ABCB11):c.2535C>T (p.Ala845=)

Gene:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 168944680 (on Assembly GRCh38)
• Chr2: 169801190 (on Assembly GRCh37)

Preferred name:

NM_003742.4(ABCB11):c.2535C>T (p.Ala845=)

HGVS:

• NC_000002.12:g.168944680G>A
• NG_007374.2:g.91717C>T
• NM_003742.4:c.2535C>TMANE SELECT
• NP_003733.2:p.Ala845=
• LRG_1199t1:c.2535C>T
• LRG_1199:g.91717C>T
• LRG_1199p1:p.Ala845=
• NC_000002.11:g.169801190G>A
• NG_007374.1:g.91644C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1347731818

NCBI 1000 Genomes Browser:

rs1347731818

Molecular consequence:

• NM_003742.4:c.2535C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2