Linked Data
ClinVar Variation Id:
217450
dbSNP Id:
rs780594709
ExAC:
11:68701322 C / T
gnomAD v2:
11-68701322-C-T
gnomAD v3:
11-68933854-C-T
gnomAD v4:
11-68933854-C-T
PubMed:
PMID:27450922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933854C>T , CM000673.2:g.68933854C>T | GRCh38 |
| NC_000011.9:g.68701322C>T , CM000673.1:g.68701322C>T | GRCh37 |
| NC_000011.8:g.68457898C>T | NCBI36 |
| NG_007976.1:g.35004C>T , LRG_250:g.35004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1478C>T MANE Select | ENSP00000255078.4:p.Thr493Ile | |
| ENST00000674955.1:c.*195C>T | ENSP00000502463.1:n.*195C>T | |
| ENST00000675118.1:c.966C>T | ||
| ENST00000675205.1:n.183+373C>T | ||
| ENST00000675615.1:c.1478C>T | ENSP00000502413.1:p.Thr493Ile | |
| ENST00000675648.1:n.853C>T | ||
| ENST00000675997.1:n.113-610C>T | ||
| ENST00000676173.1:n.2223C>T | ||
| ENST00000676228.1:c.*801C>T | ENSP00000502375.1:n.*801C>T | |
| ENST00000255078.7:c.1478C>T | ENSP00000255078.3:p.Thr493Ile | |
| ENST00000537458.5:n.595C>T | ||
| ENST00000539064.5:n.1237C>T | ||
| ENST00000541229.5:n.173C>T | ||
| ENST00000543739.5:n.595C>T | ||
| NM_002180.2:c.1478C>T , LRG_250t1:c.1478C>T | NP_002171.2:p.Thr493Ile | |
| XM_005273974.2:c.467C>T | XP_005274031.1:p.Thr156Ile | |
| XM_005273975.2:c.350C>T | XP_005274032.1:p.Thr117Ile | |
| XM_011544994.1:c.245C>T | XP_011543296.1:p.Thr82Ile | |
| XR_949903.1:n.1580C>T | ||
| XM_005273975.3:c.350C>T | XP_005274032.1:p.Thr117Ile | |
| XM_017017669.2:c.467C>T | XP_016873158.1:p.Thr156Ile | |
| XM_017017670.2:c.467C>T | XP_016873159.1:p.Thr156Ile | |
| XM_017017671.2:c.1478C>T | XP_016873160.1:p.Thr493Ile | |
| XR_949903.3:n.1576C>T | ||
| NM_002180.3:c.1478C>T MANE Select | NP_002171.2:p.Thr493Ile |