Linked Data
ClinVar Variation Id:
56223
ClinVar RCV Id:
RCV000049634
dbSNP Id:
rs386833674
PubMed:
PMID:10677297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291147G>A , CM000683.2:g.44291147G>A | GRCh38 |
| NC_000021.8:g.45711030G>A , CM000683.1:g.45711030G>A | GRCh37 |
| NC_000021.7:g.44535458G>A | NCBI36 |
| NG_009556.1:g.10268G>A , LRG_18:g.10268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.932G>A MANE Select | ENSP00000291582.5:p.Cys311Tyr | |
| ENST00000291582.5:c.932G>A | ENSP00000291582.5:p.Cys311Tyr | |
| ENST00000337909.5:n.393G>A | ||
| ENST00000397994.8:n.393G>A | ||
| ENST00000527919.5:n.1662G>A | ||
| ENST00000530812.5:n.2679G>A | ||
| NM_000383.3:c.932G>A | NP_000374.1:p.Cys311Tyr | |
| XM_011529551.1:c.929G>A | XP_011527853.1:p.Cys310Tyr | |
| NM_000383.4:c.932G>A MANE Select | NP_000374.1:p.Cys311Tyr |