Canonical Allele Identifier: CA994367619

Gene:

Linked Data

• dbSNP Id: rs2090125890
• gnomAD v3: 19-20217904-C-G
• gnomAD v4: 19-20217904-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20217904C>G , CM000681.2:g.20217904C>G	GRCh38
NC_000019.9:g.20328713C>G , CM000681.1:g.20328713C>G	GRCh37
NC_000019.8:g.20189713C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-588G>C
XR_936389.1:n.502-588G>C
XR_936390.1:n.511-588G>C
XR_936391.1:n.514-588G>C
XR_936392.1:n.514-588G>C
XR_936394.1:n.41-830C>G
XR_001754063.2:n.1506-588G>C
XR_001754064.2:n.138-588G>C
XR_001754066.1:n.3912-588G>C
XR_001754067.1:n.3912-588G>C
XR_001754068.1:n.3912-588G>C
XR_936394.2:n.41-830C>G
XR_936406.2:n.1411-588G>C