Canonical Allele Identifier: CA160479206
Gene:

Linked Data

dbSNP Id: rs551265228
gnomAD v2: 7-68611933-C-T
gnomAD v3: 7-69146946-C-T
gnomAD v4: 7-69146946-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146946C>T , CM000669.2:g.69146946C>T GRCh38
NC_000007.13:g.68611933C>T , CM000669.1:g.68611933C>T GRCh37
NC_000007.12:g.68249869C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-820G>A