Canonical Allele Identifier: CA1059430071

Gene:

Linked Data

• dbSNP Id: rs914702246
• gnomAD v3: 4-12578359-G-T
• gnomAD v4: 4-12578359-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578359G>T , CM000666.2:g.12578359G>T	GRCh38
NC_000004.11:g.12579983G>T , CM000666.1:g.12579983G>T	GRCh37
NC_000004.10:g.12189081G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30983C>A
XR_001741374.1:n.254+44296C>A
XR_925406.3:n.140+30983C>A