Linked Data
ClinVar Variation Id:
10857
dbSNP Id:
rs387906484
COSMIC:
COSM1114849
PubMed:
PMID:8504307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129589905C>T , CM000685.2:g.129589905C>T | GRCh38 |
| NC_000023.10:g.128723882C>T , CM000685.1:g.128723882C>T | GRCh37 |
| NC_000023.9:g.128551563C>T | NCBI36 |
| NG_008638.1:g.54631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693473.1:c.2647C>T | ||
| ENST00000371113.9:c.2530C>T MANE Select | ENSP00000360154.4:p.Arg844Ter | |
| ENST00000646010.1:c.2578C>T | ||
| ENST00000646914.1:c.1835C>T | ||
| ENST00000647245.1:c.2081C>T | ||
| ENST00000357121.5:c.2506C>T | ENSP00000349635.5:p.Arg836Ter | |
| ENST00000371113.8:c.2530C>T | ENSP00000360154.4:p.Arg844Ter | |
| ENST00000463271.1:n.317C>T | ||
| NM_000276.3:c.2530C>T | NP_000267.2:p.Arg844Ter | |
| NM_001587.3:c.2506C>T | NP_001578.2:p.Arg836Ter | |
| XM_005262422.1:c.2059C>T | XP_005262479.1:p.Arg687Ter | |
| XM_011531342.1:c.2533C>T | XP_011529644.1:p.Arg845Ter | |
| XM_011531343.1:c.2509C>T | XP_011529645.1:p.Arg837Ter | |
| XM_011531344.1:c.2386C>T | XP_011529646.1:p.Arg796Ter | |
| XM_011531345.1:c.2386C>T | XP_011529647.1:p.Arg796Ter | |
| NM_001318784.1:c.2533C>T | NP_001305713.1:p.Arg845Ter | |
| XM_005262422.2:c.2059C>T | XP_005262479.1:p.Arg687Ter | |
| XM_011531344.3:c.2386C>T | XP_011529646.1:p.Arg796Ter | |
| XM_011531345.3:c.2386C>T | XP_011529647.1:p.Arg796Ter | |
| NM_000276.4:c.2530C>T MANE Select | NP_000267.2:p.Arg844Ter | |
| NM_001318784.2:c.2533C>T | NP_001305713.1:p.Arg845Ter | |
| NM_001587.4:c.2506C>T | NP_001578.2:p.Arg836Ter |