Linked Data
ClinVar Variation Id:
487525
dbSNP Id:
rs201363394
ExAC:
11:57379358 C / T
gnomAD v2:
11-57379358-C-T
gnomAD v3:
11-57611885-C-T
gnomAD v4:
11-57611885-C-T
COSMIC:
COSM3415999
PubMed:
PMID:20864152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57611885C>T , CM000673.2:g.57611885C>T | GRCh38 |
| NC_000011.9:g.57379358C>T , CM000673.1:g.57379358C>T | GRCh37 |
| NC_000011.8:g.57135934C>T | NCBI36 |
| NG_009625.1:g.19332C>T , LRG_105:g.19332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1198C>T MANE Select | ENSP00000278407.4:p.Arg400Cys | |
| ENST00000528996.2:c.*95C>T | ENSP00000431226.2:n.*95C>T | |
| ENST00000531605.2:c.*974C>T | ENSP00000503752.1:n.*974C>T | |
| ENST00000619430.2:c.994C>T | ENSP00000478572.2:p.Arg332Cys | |
| ENST00000676670.1:c.1198C>T | ENSP00000504807.1:p.Arg400Cys | |
| ENST00000676741.1:n.2280C>T | ||
| ENST00000677624.1:c.*618C>T | ENSP00000503979.1:n.*618C>T | |
| ENST00000677625.1:c.1144C>T | ENSP00000502857.1:p.Arg382Cys | |
| ENST00000677856.1:n.1451C>T | ||
| ENST00000677915.1:c.*95C>T | ENSP00000503118.1:n.*95C>T | |
| ENST00000678533.1:c.*752C>T | ENSP00000503873.1:n.*752C>T | |
| ENST00000678592.1:c.*138C>T | ENSP00000504424.1:n.*138C>T | |
| ENST00000278407.8:c.1198C>T | ENSP00000278407.4:p.Arg400Cys | |
| ENST00000340687.10:c.1087C>T | ENSP00000341861.6:p.Arg363Cys | |
| ENST00000378323.8:c.1213C>T | ENSP00000367574.4:p.Arg405Cys | |
| ENST00000378324.6:c.1042C>T | ENSP00000367575.2:p.Arg348Cys | |
| ENST00000403558.1:c.1327C>T | ENSP00000384420.1:p.Arg443Cys | |
| ENST00000528996.1:c.399C>T | ENSP00000431226.1:n.399C>T | |
| ENST00000530113.1:n.655C>T | ||
| ENST00000531133.5:c.699C>T | ENSP00000435431.1:n.699C>T | |
| ENST00000531797.5:c.*223C>T | ENSP00000432554.1:n.*223C>T | |
| ENST00000619430.1:c.349-20C>T | ENSP00000478572.1:n.349-20C>T | |
| NM_000062.2:c.1198C>T , LRG_105t1:c.1198C>T | NP_000053.2:p.Arg400Cys | |
| NM_001032295.1:c.1198C>T | NP_001027466.1:p.Arg400Cys | |
| NM_000062.3:c.1198C>T MANE Select | NP_000053.2:p.Arg400Cys | |
| NM_001032295.2:c.1198C>T | NP_001027466.1:p.Arg400Cys |