Canonical Allele Identifier: CA2813890507

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218345C>G , CM000681.2:g.20218345C>G	GRCh38
NC_000019.9:g.20329154C>G , CM000681.1:g.20329154C>G	GRCh37
NC_000019.8:g.20190154C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1029G>C
XR_936389.1:n.502-1029G>C
XR_936390.1:n.511-1029G>C
XR_936391.1:n.514-1029G>C
XR_936392.1:n.514-1029G>C
XR_936394.1:n.41-389C>G
XR_001754063.2:n.1506-1029G>C
XR_001754064.2:n.138-1029G>C
XR_001754066.1:n.3912-1029G>C
XR_001754067.1:n.3912-1029G>C
XR_001754068.1:n.3912-1029G>C
XR_936394.2:n.41-389C>G
XR_936406.2:n.1411-1029G>C