Canonical Allele Identifier: CA994367675

Gene:

Linked Data

• dbSNP Id: rs2090126753
• gnomAD v3: 19-20217987-C-T
• gnomAD v4: 19-20217987-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20217987C>T , CM000681.2:g.20217987C>T	GRCh38
NC_000019.9:g.20328796C>T , CM000681.1:g.20328796C>T	GRCh37
NC_000019.8:g.20189796C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-671G>A
XR_936389.1:n.502-671G>A
XR_936390.1:n.511-671G>A
XR_936391.1:n.514-671G>A
XR_936392.1:n.514-671G>A
XR_936394.1:n.41-747C>T
XR_001754063.2:n.1506-671G>A
XR_001754064.2:n.138-671G>A
XR_001754066.1:n.3912-671G>A
XR_001754067.1:n.3912-671G>A
XR_001754068.1:n.3912-671G>A
XR_936394.2:n.41-747C>T
XR_936406.2:n.1411-671G>A