Canonical Allele Identifier: CA823159286
Gene:

Linked Data

dbSNP Id: rs1320894658
gnomAD v3: 6-23077123-G-A
gnomAD v4: 6-23077123-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.23077123G>A , CM000668.2:g.23077123G>A GRCh38
NC_000006.11:g.23077351G>A , CM000668.1:g.23077351G>A GRCh37
NC_000006.10:g.23185330G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926583.1:n.246-20056C>T
XR_926584.1:n.246-60303C>T
XR_926583.2:n.246-20056C>T