Canonical Allele Identifier: CA14687924

Gene:

Linked Data

• ClinVar Variation Id: 1250285
• ClinVar RCV Id: RCV001652535
• dbSNP Id: rs40500
• gnomAD v2: 19-34012861-C-T
• gnomAD v3: 19-33521955-C-T
• gnomAD v4: 19-33521955-C-T
• MyVariant Identifiers: chr19:g.34012861C>T (hg19) ; chr19:g.33521955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521955C>T , CM000681.2:g.33521955C>T	GRCh38
NC_000019.9:g.34012861C>T , CM000681.1:g.34012861C>T	GRCh37
NC_000019.8:g.38704701C>T	NCBI36
NG_013358.1:g.4939G>A
NG_013358.2:g.4939G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.14C>T
XR_935919.1:n.9C>T
XR_001754035.2:n.22C>T
XR_935918.2:n.22C>T