Canonical Allele Identifier: CA2467802736
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.641039A= , CM000686.2:g.641039A= GRCh38
NC_000024.9:g.551774A= , CM000686.1:g.551774A= GRCh37
NC_000024.8:g.521774A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.585A= ENSP00000518639.1:p.Arg195=
ENST00000711142.1:c.585A= ENSP00000518640.1:p.Arg195=
ENST00000711143.1:c.585A= ENSP00000518641.1:p.Arg195=
ENST00000711145.1:c.585A= ENSP00000518642.1:p.Arg195=