Canonical Allele Identifier: CA775632276
Gene:

Linked Data

dbSNP Id: rs1369818529
gnomAD v3: 17-8137377-C-T
gnomAD v4: 17-8137377-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137377C>T , CM000679.2:g.8137377C>T GRCh38
NC_000017.10:g.8040695C>T , CM000679.1:g.8040695C>T GRCh37
NC_000017.9:g.7981420C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1472C>T
XR_934203.1:n.70-2100C>T
XR_934202.2:n.414-1472C>T