Linked Data
ClinVar Variation Id:
161340
ClinVar RCV Id:
RCV000148746
dbSNP Id:
rs369881972
ExAC:
2:128186146 C / T
gnomAD v2:
2-128186146-C-T
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428570C>T , CM000664.2:g.127428570C>T | GRCh38 |
| NC_000002.11:g.128186146C>T , CM000664.1:g.128186146C>T | GRCh37 |
| NC_000002.10:g.127902616C>T | NCBI36 |
| NG_016323.1:g.15151C>T , LRG_599:g.15151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1010C>T MANE Select | ENSP00000234071.4:p.Thr337Ile | |
| ENST00000234071.7:c.1010C>T | ENSP00000234071.3:p.Thr337Ile | |
| ENST00000402125.2:c.334C>T | ||
| ENST00000409048.1:c.1112C>T | ENSP00000386679.1:p.Thr371Ile | |
| NM_000312.3:c.1010C>T , LRG_599t1:c.1010C>T | NP_000303.1:p.Thr337Ile | |
| XM_005263715.3:c.1193C>T | XP_005263772.1:p.Thr398Ile | |
| XM_005263716.3:c.1175C>T | XP_005263773.1:p.Thr392Ile | |
| XM_005263717.3:c.1073C>T | XP_005263774.1:p.Thr358Ile | |
| XR_923313.1:n.1332-306G>A | ||
| XM_005263717.4:c.1073C>T | XP_005263774.1:p.Thr358Ile | |
| XM_017004505.1:c.1253C>T | XP_016859994.1:p.Thr418Ile | |
| XM_024453002.1:c.1355C>T | XP_024308770.1:p.Thr452Ile | |
| XM_024453003.1:c.1295C>T | XP_024308771.1:p.Thr432Ile | |
| XM_024453004.1:c.1193C>T | XP_024308772.1:p.Thr398Ile | |
| XM_024453005.1:c.1175C>T | XP_024308773.1:p.Thr392Ile | |
| XM_024453006.1:c.1112C>T | XP_024308774.1:p.Thr371Ile | |
| XR_001739705.1:n.3607-306G>A | ||
| XR_923313.2:n.4043-306G>A | ||
| NM_000312.4:c.1010C>T MANE Select | NP_000303.1:p.Thr337Ile | |
| NM_001375602.1:c.1193C>T | NP_001362531.1:p.Thr398Ile | |
| NM_001375603.1:c.1175C>T | NP_001362532.1:p.Thr392Ile | |
| NM_001375604.1:c.1073C>T | NP_001362533.1:p.Thr358Ile | |
| NM_001375605.1:c.1112C>T | NP_001362534.1:p.Thr371Ile | |
| NM_001375606.1:c.1178C>T | NP_001362535.1:p.Thr393Ile | |
| NM_001375607.1:c.1196C>T | NP_001362536.1:p.Thr399Ile | |
| NM_001375608.1:c.953C>T | NP_001362537.1:p.Thr318Ile | |
| NM_001375609.1:c.986C>T | NP_001362538.1:p.Thr329Ile | |
| NM_001375610.1:c.1004C>T | NP_001362539.1:p.Thr335Ile | |
| NM_001375611.1:c.1010C>T | NP_001362540.1:p.Thr337Ile | |
| NM_001375613.1:c.1010C>T | NP_001362542.1:p.Thr337Ile |