Canonical Allele Identifier: CA994367819

Gene:

Linked Data

• dbSNP Id: rs1314677846
• gnomAD v3: 19-20218274-G-T
• gnomAD v4: 19-20218274-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218274G>T , CM000681.2:g.20218274G>T	GRCh38
NC_000019.9:g.20329083G>T , CM000681.1:g.20329083G>T	GRCh37
NC_000019.8:g.20190083G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-958C>A
XR_936389.1:n.502-958C>A
XR_936390.1:n.511-958C>A
XR_936391.1:n.514-958C>A
XR_936392.1:n.514-958C>A
XR_936394.1:n.41-460G>T
XR_001754063.2:n.1506-958C>A
XR_001754064.2:n.138-958C>A
XR_001754066.1:n.3912-958C>A
XR_001754067.1:n.3912-958C>A
XR_001754068.1:n.3912-958C>A
XR_936394.2:n.41-460G>T
XR_936406.2:n.1411-958C>A