Canonical Allele Identifier: CA10655389
Gene:

Linked Data

dbSNP Id: rs2376803
gnomAD v2: 1-1967954-C-T
gnomAD v3: 1-2036515-C-T
gnomAD v4: 1-2036515-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036515C>T , CM000663.2:g.2036515C>T GRCh38
NC_000001.10:g.1967954C>T , CM000663.1:g.1967954C>T GRCh37
NC_000001.9:g.1957814C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_946823.1:n.693G>A
XR_001737845.2:n.696G>A
XR_946823.3:n.696G>A