Canonical Allele Identifier: CA202784140
Gene:

Linked Data

dbSNP Id: rs10795668
gnomAD v2: 10-8701219-G-A
gnomAD v3: 10-8659256-G-A
gnomAD v4: 10-8659256-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8659256G>A , CM000672.2:g.8659256G>A GRCh38
NC_000010.10:g.8701219G>A , CM000672.1:g.8701219G>A GRCh37
NC_000010.9:g.8741225G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930641.1:n.132-40C>T
XR_001747277.1:n.101-40C>T