Canonical Allele Identifier: CA2467802735

Gene:

Linked Data

• dbSNP Id: rs188370909

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641038G>C , CM000686.2:g.641038G>C	GRCh38
NC_000024.9:g.551773G>C , CM000686.1:g.551773G>C	GRCh37
NC_000024.8:g.521773G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.584G>C	ENSP00000518639.1:p.Arg195Pro
ENST00000711142.1:c.584G>C	ENSP00000518640.1:p.Arg195Pro
ENST00000711143.1:c.584G>C	ENSP00000518641.1:p.Arg195Pro
ENST00000711145.1:c.584G>C	ENSP00000518642.1:p.Arg195Pro