Canonical Allele Identifier: CA2467795947
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.634644G= , CM000686.2:g.634644G= GRCh38
NC_000024.9:g.545379G= , CM000686.1:g.545379G= GRCh37
NC_000024.8:g.515379G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.304G= ENSP00000518639.1:p.Glu102=
ENST00000711142.1:c.304G= ENSP00000518640.1:p.Glu102=
ENST00000711143.1:c.304G= ENSP00000518641.1:p.Glu102=
ENST00000711145.1:c.304G= ENSP00000518642.1:p.Glu102=