Canonical Allele Identifier: CA12926813
Gene:

Linked Data

dbSNP Id: rs17786744
gnomAD v2: 8-23777006-A-G
gnomAD v3: 8-23919493-A-G
gnomAD v4: 8-23919493-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23919493A>G , CM000670.2:g.23919493A>G GRCh38
NC_000008.10:g.23777006A>G , CM000670.1:g.23777006A>G GRCh37
NC_000008.9:g.23832951A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745844.1:n.138+725A>G