Canonical Allele Identifier: CA994367948

Gene:

Linked Data

• dbSNP Id: rs975747234
• gnomAD v3: 19-20218460-T-A
• gnomAD v4: 19-20218460-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218460T>A , CM000681.2:g.20218460T>A	GRCh38
NC_000019.9:g.20329269T>A , CM000681.1:g.20329269T>A	GRCh37
NC_000019.8:g.20190269T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1144A>T
XR_936389.1:n.502-1144A>T
XR_936390.1:n.511-1144A>T
XR_936391.1:n.514-1144A>T
XR_936392.1:n.514-1144A>T
XR_936394.1:n.41-274T>A
XR_001754063.2:n.1506-1144A>T
XR_001754064.2:n.138-1144A>T
XR_001754066.1:n.3912-1144A>T
XR_001754067.1:n.3912-1144A>T
XR_001754068.1:n.3912-1144A>T
XR_936394.2:n.41-274T>A
XR_936406.2:n.1411-1144A>T