Linked Data
ClinVar Variation Id:
3271
ClinVar RCV Id:
RCV000003430
dbSNP Id:
rs121434263
COSMIC:
COSM26046
PubMed:
PMID:12434154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122328G>A , CM000663.2:g.193122328G>A | GRCh38 |
| NC_000001.10:g.193091458G>A , CM000663.1:g.193091458G>A | GRCh37 |
| NC_000001.9:g.191358081G>A | NCBI36 |
| NG_012691.1:g.5371G>A , LRG_507:g.5371G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367435.5:c.128G>A MANE Select | ENSP00000356405.4:p.Trp43Ter | |
| ENST00000635846.1:c.128G>A | ENSP00000490035.1:p.Trp43Ter | |
| ENST00000643006.1:c.128G>A | ENSP00000496633.1:p.Trp43Ter | |
| ENST00000643784.1:c.128G>A | ENSP00000494944.1:p.Trp43Ter | |
| ENST00000647662.1:n.29G>A | ||
| ENST00000648071.1:c.128G>A | ENSP00000497513.1:p.Trp43Ter | |
| ENST00000649606.1:n.141G>A | ||
| ENST00000649895.1:n.346G>A | ||
| ENST00000650197.1:c.128G>A | ENSP00000496929.1:p.Trp43Ter | |
| ENST00000367435.3:c.128G>A | ENSP00000356405.3:p.Trp43Ter | |
| NM_024529.4:c.128G>A , LRG_507t1:c.128G>A | NP_078805.3:p.Trp43Ter | |
| XM_006711537.2:c.128G>A | XP_006711600.1:p.Trp43Ter | |
| XM_006711537.4:c.128G>A | XP_006711600.1:p.Trp43Ter | |
| XR_001738350.1:n.1329C>T | ||
| NM_024529.5:c.128G>A MANE Select | NP_078805.3:p.Trp43Ter |