Canonical Allele Identifier: CA77246685
Gene:

Linked Data

dbSNP Id: rs997633909
gnomAD v3: 3-72266877-A-C
gnomAD v4: 3-72266877-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266877A>C , CM000665.2:g.72266877A>C GRCh38
NC_000003.11:g.72316028A>C , CM000665.1:g.72316028A>C GRCh37
NC_000003.10:g.72398718A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8231T>G