Canonical Allele Identifier: CA1078753762
Gene:

Linked Data

dbSNP Id: rs966022715
gnomAD v3: 5-92222880-T-A
gnomAD v4: 5-92222880-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222880T>A , CM000667.2:g.92222880T>A GRCh38
NC_000005.9:g.91518697T>A , CM000667.1:g.91518697T>A GRCh37
NC_000005.8:g.91554453T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18196T>A