Canonical Allele Identifier: CA175154049
Gene:

Linked Data

dbSNP Id: rs538829209
gnomAD v3: 8-33808411-T-A
gnomAD v4: 8-33808411-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808411T>A , CM000670.2:g.33808411T>A GRCh38
NC_000008.10:g.33665929T>A , CM000670.1:g.33665929T>A GRCh37
NC_000008.9:g.33785471T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11975T>A
XR_002956701.1:n.240+11975T>A