Canonical Allele Identifier: CA2467802770

Gene:

Linked Data

• ClinVar Variation Id: 1685119
• ClinVar RCV Id: RCV002248211
• dbSNP Id: rs773859404

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641070C>T , CM000686.2:g.641070C>T	GRCh38
NC_000024.9:g.551805C>T , CM000686.1:g.551805C>T	GRCh37
NC_000024.8:g.521805C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000711141.1:c.616C>T	ENSP00000518639.1:p.Arg206Trp
ENST00000711142.1:c.616C>T	ENSP00000518640.1:p.Arg206Trp
ENST00000711143.1:c.616C>T	ENSP00000518641.1:p.Arg206Trp
ENST00000711145.1:c.616C>T	ENSP00000518642.1:p.Arg206Trp