Canonical Allele Identifier: CA633718629

Gene:

Linked Data

• dbSNP Id: rs1164238405
• gnomAD v2: 19-51340542-C-T
• gnomAD v3: 19-50837286-C-T
• gnomAD v4: 19-50837286-C-T
• MyVariant Identifiers: chr19:g.51340542C>T (hg19) ; chr19:g.50837286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837286C>T , CM000681.2:g.50837286C>T	GRCh38
NC_000019.9:g.51340542C>T , CM000681.1:g.51340542C>T	GRCh37
NC_000019.8:g.56032354C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+5993C>T
NR_131205.1:n.230+5993C>T
XR_936030.1:n.298+5993C>T
XR_936031.1:n.298+5993C>T
XR_936032.1:n.298+5993C>T
XR_936033.1:n.294+5993C>T
XR_936035.1:n.281+5993C>T