Canonical Allele Identifier: CA2327233310

Gene:

Linked Data

• dbSNP Id: rs2090130683
• gnomAD v3: 19-20218472-A-G
• gnomAD v4: 19-20218472-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218472A>G , CM000681.2:g.20218472A>G	GRCh38
NC_000019.9:g.20329281A>G , CM000681.1:g.20329281A>G	GRCh37
NC_000019.8:g.20190281A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1156T>C
XR_936389.1:n.502-1156T>C
XR_936390.1:n.511-1156T>C
XR_936391.1:n.514-1156T>C
XR_936392.1:n.514-1156T>C
XR_936394.1:n.41-262A>G
XR_001754063.2:n.1506-1156T>C
XR_001754064.2:n.138-1156T>C
XR_001754066.1:n.3912-1156T>C
XR_001754067.1:n.3912-1156T>C
XR_001754068.1:n.3912-1156T>C
XR_936394.2:n.41-262A>G
XR_936406.2:n.1411-1156T>C