Canonical Allele Identifier: CA14394871
Gene:

Linked Data

dbSNP Id: rs2585408
gnomAD v2: 17-8043753-C-T
gnomAD v3: 17-8140435-C-T
gnomAD v4: 17-8140435-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8140435C>T , CM000679.2:g.8140435C>T GRCh38
NC_000017.10:g.8043753C>T , CM000679.1:g.8043753C>T GRCh37
NC_000017.9:g.7984478C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934203.1:n.77+951C>T