Canonical Allele Identifier: CA669472900
Gene:

Linked Data

dbSNP Id: rs1469783569
gnomAD v3: 10-8697620-C-T
gnomAD v4: 10-8697620-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697620C>T , CM000672.2:g.8697620C>T GRCh38
NC_000010.10:g.8739583C>T , CM000672.1:g.8739583C>T GRCh37
NC_000010.9:g.8779589C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27819G>A