Canonical Allele Identifier: CA867312779
Gene:

Linked Data

dbSNP Id: rs1444033016
gnomAD v3: 9-79730967-A-G
gnomAD v4: 9-79730967-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.79730967A>G , CM000671.2:g.79730967A>G GRCh38
NC_000009.11:g.82345882A>G , CM000671.1:g.82345882A>G GRCh37
NC_000009.10:g.81535702A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929980.1:n.1019+655A>G