Canonical Allele Identifier: CA11904820
Gene:

Linked Data

dbSNP Id: rs12644671
gnomAD v2: 4-34024077-C-G
gnomAD v3: 4-34022455-C-G
gnomAD v4: 4-34022455-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.34022455C>G , CM000666.2:g.34022455C>G GRCh38
NC_000004.11:g.34024077C>G , CM000666.1:g.34024077C>G GRCh37
NC_000004.10:g.33700472C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125902.1:n.59+17380G>C