Canonical Allele Identifier: CA15647892
Gene:

Linked Data

dbSNP Id: rs962993
gnomAD v2: 10-9053132-C-T
gnomAD v3: 10-9011169-C-T
gnomAD v4: 10-9011169-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.9011169C>T , CM000672.2:g.9011169C>T GRCh38
NC_000010.10:g.9053132C>T , CM000672.1:g.9053132C>T GRCh37
NC_000010.9:g.9093138C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930641.1:n.32+54194G>A