Canonical Allele Identifier: CA775632171
Gene:

Linked Data

dbSNP Id: rs1284452573
gnomAD v3: 17-8137170-C-T
gnomAD v4: 17-8137170-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137170C>T , CM000679.2:g.8137170C>T GRCh38
NC_000017.10:g.8040488C>T , CM000679.1:g.8040488C>T GRCh37
NC_000017.9:g.7981213C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1679C>T
XR_934203.1:n.70-2307C>T
XR_934202.2:n.414-1679C>T