Linked Data
ClinVar Variation Id:
3274
ClinVar RCV Id:
RCV000003433
dbSNP Id:
rs121434265
COSMIC:
COSM26051
PubMed:
PMID:14585940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193125142C>G , CM000663.2:g.193125142C>G | GRCh38 |
| NC_000001.10:g.193094272C>G , CM000663.1:g.193094272C>G | GRCh37 |
| NC_000001.9:g.191360895C>G | NCBI36 |
| NG_012691.1:g.8185C>G , LRG_507:g.8185C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.162C>G MANE Select | ENSP00000356405.4:p.Tyr54Ter | |
| ENST00000635846.1:c.162C>G | ENSP00000490035.1:p.Tyr54Ter | |
| ENST00000643006.1:c.162C>G | ENSP00000496633.1:p.Tyr54Ter | |
| ENST00000643784.1:c.162C>G | ENSP00000494944.1:p.Tyr54Ter | |
| ENST00000647662.1:n.63C>G | ||
| ENST00000648071.1:c.162C>G | ENSP00000497513.1:p.Tyr54Ter | |
| ENST00000649606.1:n.175C>G | ||
| ENST00000649706.1:n.103C>G | ||
| ENST00000649895.1:n.380C>G | ||
| ENST00000650197.1:c.162C>G | ENSP00000496929.1:p.Tyr54Ter | |
| ENST00000367435.3:c.162C>G | ENSP00000356405.3:p.Tyr54Ter | |
| ENST00000482484.1:n.123C>G | ||
| NM_024529.4:c.162C>G , LRG_507t1:c.162C>G | NP_078805.3:p.Tyr54Ter | |
| XM_006711537.2:c.162C>G | XP_006711600.1:p.Tyr54Ter | |
| XR_241165.2:n.304-835G>C | ||
| XM_006711537.4:c.162C>G | XP_006711600.1:p.Tyr54Ter | |
| NM_024529.5:c.162C>G MANE Select | NP_078805.3:p.Tyr54Ter |