Linked Data
ClinVar Variation Id:
29699
dbSNP Id:
rs387906625
COSMIC:
COSM1629578
PubMed:
PMID:1852206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463219T>C , CM000677.2:g.48463219T>C | GRCh38 |
| NC_000015.9:g.48755416T>C , CM000677.1:g.48755416T>C | GRCh37 |
| NC_000015.8:g.46542708T>C | NCBI36 |
| NG_008805.2:g.187570A>G , LRG_778:g.187570A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5087A>G | ENSP00000453958.2:p.Tyr1696Cys | |
| ENST00000674301.2:c.5087A>G | ENSP00000501333.2:p.Tyr1696Cys | |
| ENST00000684448.1:n.3761A>G | ||
| ENST00000316623.10:c.5087A>G MANE Select | ENSP00000325527.5:p.Tyr1696Cys | |
| ENST00000674301.1:c.86A>G | ENSP00000501333.1:p.Tyr29Cys | |
| ENST00000316623.9:c.5087A>G | ENSP00000325527.5:p.Tyr1696Cys | |
| ENST00000537463.6:c.*850A>G | ENSP00000440294.2:n.*850A>G | |
| ENST00000559133.5:c.394A>G | ||
| NM_000138.4:c.5087A>G , LRG_778t1:c.5087A>G | NP_000129.3:p.Tyr1696Cys | |
| NM_000138.5:c.5087A>G MANE Select | NP_000129.3:p.Tyr1696Cys |