Canonical Allele Identifier: CA120045
Gene: STAR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8997
ClinVar RCV Id: RCV000009560
dbSNP Id: rs104894090

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146051G>A , CM000670.2:g.38146051G>A GRCh38
NC_000008.10:g.38003569G>A , CM000670.1:g.38003569G>A GRCh37
NC_000008.9:g.38122726G>A NCBI36
NG_011827.1:g.10032C>T

Transcript Alleles

HGVS Amino-acid change
NM_000349.2:c.562C>T VV NP_000340.2:p.Arg188Cys
XM_006716392.1:c.562C>T XP_006716455.1:p.Arg188Cys
ENST00000276449.8:c.562C>T ENSP00000276449.3:p.Arg188Cys
ENST00000520114.1:n.1049C>T
ENST00000522050.1:n.498C>T