Canonical Allele Identifier: CA13180951
Gene:

Linked Data

dbSNP Id: rs10508372
gnomAD v2: 10-8972018-G-A
gnomAD v3: 10-8930055-G-A
gnomAD v4: 10-8930055-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8930055G>A , CM000672.2:g.8930055G>A GRCh38
NC_000010.10:g.8972018G>A , CM000672.1:g.8972018G>A GRCh37
NC_000010.9:g.9012024G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930641.1:n.32+135308C>T