Linked Data
ClinVar Variation Id:
11480
ClinVar RCV Id:
RCV000012235
dbSNP Id:
rs122461160
PubMed:
PMID:10471494
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29955106C>A , CM000685.2:g.29955106C>A | GRCh38 |
| NC_000023.10:g.29973223C>A , CM000685.1:g.29973223C>A | GRCh37 |
| NC_000023.9:g.29883144C>A | NCBI36 |
| NG_008292.1:g.1372543C>A | |
| NG_008292.2:g.1372543C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378993.6:c.1377C>A MANE Select | ENSP00000368278.1:p.Tyr459Ter | |
| ENST00000302196.5:c.600C>A | ENSP00000305200.5:p.Tyr200Ter | |
| ENST00000378993.5:c.1377C>A | ENSP00000368278.1:p.Tyr459Ter | |
| NM_014271.3:c.1377C>A | NP_055086.1:p.Tyr459Ter | |
| XM_005274441.1:c.1377C>A | XP_005274498.1:p.Tyr459Ter | |
| XM_011545445.1:c.1377C>A | XP_011543747.1:p.Tyr459Ter | |
| XM_017029240.1:c.1377C>A | XP_016884729.1:p.Tyr459Ter | |
| XM_017029241.1:c.999C>A | XP_016884730.1:p.Tyr333Ter | |
| NM_014271.4:c.1377C>A MANE Select | NP_055086.1:p.Tyr459Ter |