Canonical Allele Identifier: CA77246658
Gene:

Linked Data

dbSNP Id: rs910101429
gnomAD v2: 3-72315864-G-T
gnomAD v3: 3-72266713-G-T
gnomAD v4: 3-72266713-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266713G>T , CM000665.2:g.72266713G>T GRCh38
NC_000003.11:g.72315864G>T , CM000665.1:g.72315864G>T GRCh37
NC_000003.10:g.72398554G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8395C>A