ClinVar

NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)

Gene:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66435041 (on Assembly GRCh38)
• Chr15: 66727379 (on Assembly GRCh37)

Preferred name:

NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)

HGVS:

• NC_000015.10:g.66435041C>T
• NG_008305.1:g.53169C>T
• NM_001411065.1:c.29C>T
• NM_002755.4:c.95C>TMANE SELECT
• NP_001397994.1:p.Ala10Val
• NP_002746.1:p.Ala32Val
• NP_002746.1:p.Ala32Val
• LRG_725t1:c.95C>T
• LRG_725:g.53169C>T
• LRG_725p1:p.Ala32Val
• NC_000015.9:g.66727379C>T
• NM_002755.3:c.95C>T

This HGVS expression did not pass validation

Protein change:

A10V

Molecular consequence:

• NM_001411065.1:c.29C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002755.4:c.95C>T - missense variant - [Sequence Ontology: SO:0001583]