Canonical Allele Identifier: CA769999940
Gene:

Linked Data

dbSNP Id: rs943613887
gnomAD v3: 2-52722337-C-T
gnomAD v4: 2-52722337-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722337C>T , CM000664.2:g.52722337C>T GRCh38
NC_000002.11:g.52949475C>T , CM000664.1:g.52949475C>T GRCh37
NC_000002.10:g.52802979C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.920G>A