Canonical Allele Identifier: CA120039
Gene: STAR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8992
ClinVar RCV Id: RCV000009555
dbSNP Id: rs137852689

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145963C>G , CM000670.2:g.38145963C>G GRCh38
NC_000008.10:g.38003481C>G , CM000670.1:g.38003481C>G GRCh37
NC_000008.9:g.38122638C>G NCBI36
NG_011827.1:g.10120G>C

Transcript Alleles

HGVS Amino-acid change
NM_000349.2:c.650G>C VV NP_000340.2:p.Arg217Thr
XM_006716392.1:c.650G>C XP_006716455.1:p.Arg217Thr
ENST00000276449.8:c.650G>C ENSP00000276449.3:p.Arg217Thr
ENST00000520114.1:n.1137G>C
ENST00000522050.1:n.586G>C