Linked Data
ClinVar Variation Id:
180353
dbSNP Id:
rs730880100
COSMIC:
COSM4055316
PubMed:
PMID:14695540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488445C>T , CM000677.2:g.48488445C>T | GRCh38 |
| NC_000015.9:g.48780642C>T , CM000677.1:g.48780642C>T | GRCh37 |
| NC_000015.8:g.46567934C>T | NCBI36 |
| NG_008805.2:g.162344G>A , LRG_778:g.162344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3131G>A | ENSP00000453958.2:p.Cys1044Tyr | |
| ENST00000674301.2:c.3131G>A | ENSP00000501333.2:p.Cys1044Tyr | |
| ENST00000684448.1:n.1805G>A | ||
| ENST00000316623.10:c.3131G>A MANE Select | ENSP00000325527.5:p.Cys1044Tyr | |
| ENST00000316623.9:c.3131G>A | ENSP00000325527.5:p.Cys1044Tyr | |
| ENST00000537463.6:c.637-13795G>A | ENSP00000440294.2:n.637-13795G>A | |
| NM_000138.4:c.3131G>A , LRG_778t1:c.3131G>A | NP_000129.3:p.Cys1044Tyr | |
| NM_000138.5:c.3131G>A MANE Select | NP_000129.3:p.Cys1044Tyr |