Canonical Allele Identifier: CA16174709
Gene:

Linked Data

dbSNP Id: rs10002492
gnomAD v2: 4-12579846-A-G
gnomAD v3: 4-12578222-A-G
gnomAD v4: 4-12578222-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578222A>G , CM000666.2:g.12578222A>G GRCh38
NC_000004.11:g.12579846A>G , CM000666.1:g.12579846A>G GRCh37
NC_000004.10:g.12188944A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31120T>C
XR_001741374.1:n.254+44433T>C
XR_925406.3:n.140+31120T>C