Canonical Allele Identifier: CA994367622

Gene:

Linked Data

• dbSNP Id: rs2090125905
• gnomAD v3: 19-20217908-G-A
• gnomAD v4: 19-20217908-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20217908G>A , CM000681.2:g.20217908G>A	GRCh38
NC_000019.9:g.20328717G>A , CM000681.1:g.20328717G>A	GRCh37
NC_000019.8:g.20189717G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-592C>T
XR_936389.1:n.502-592C>T
XR_936390.1:n.511-592C>T
XR_936391.1:n.514-592C>T
XR_936392.1:n.514-592C>T
XR_936394.1:n.41-826G>A
XR_001754063.2:n.1506-592C>T
XR_001754064.2:n.138-592C>T
XR_001754066.1:n.3912-592C>T
XR_001754067.1:n.3912-592C>T
XR_001754068.1:n.3912-592C>T
XR_936394.2:n.41-826G>A
XR_936406.2:n.1411-592C>T