Canonical Allele Identifier: CA581191537
Gene:

Linked Data

dbSNP Id: rs1332371242
gnomAD v2: 8-33665884-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808366C>A , CM000670.2:g.33808366C>A GRCh38
NC_000008.10:g.33665884C>A , CM000670.1:g.33665884C>A GRCh37
NC_000008.9:g.33785426C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11930C>A
XR_002956701.1:n.240+11930C>A