Canonical Allele Identifier: CA43588625
Gene:

Linked Data

dbSNP Id: rs10495669
gnomAD v2: 2-18025273-C-G
gnomAD v3: 2-17844006-C-G
gnomAD v4: 2-17844006-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17844006C>G , CM000664.2:g.17844006C>G GRCh38
NC_000002.11:g.18025273C>G , CM000664.1:g.18025273C>G GRCh37
NC_000002.10:g.17888754C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3688G>C