Linked Data
ClinVar Variation Id:
428803
dbSNP Id:
rs869025655
COSMIC:
COSM17934
CIViC:
CA351754359
PubMed:
PMID:10567493
PMID:16809612
PMID:17024664
PMID:17661816
PMID:18676741
PMID:19408298
PMID:20054297
PMID:20151405
PMID:21715564
PCER:
P-CER:CA351754359/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146625T>C , CM000665.2:g.10146625T>C | GRCh38 |
| NC_000003.11:g.10188309T>C , CM000665.1:g.10188309T>C | GRCh37 |
| NC_000003.10:g.10163309T>C | NCBI36 |
| NG_008212.3:g.9991T>C , LRG_322:g.9991T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*129T>C | ENSP00000512434.1:n.*129T>C | |
| ENST00000696143.1:c.600-3162T>C | ENSP00000512435.1:n.600-3162T>C | |
| ENST00000696153.1:c.452T>C | ENSP00000512444.1:p.Ile151Thr | |
| ENST00000256474.3:c.452T>C MANE Select | ENSP00000256474.3:p.Ile151Thr | |
| ENST00000256474.2:c.452T>C | ENSP00000256474.2:p.Ile151Thr | |
| ENST00000345392.2:c.341-3162T>C | ENSP00000344757.2:n.341-3162T>C | |
| ENST00000477538.1:n.588T>C | ||
| NM_000551.3:c.452T>C , LRG_322t1:c.452T>C | NP_000542.1:p.Ile151Thr | |
| NM_198156.2:c.341-3162T>C | NP_937799.1:n.341-3162T>C | |
| NM_001354723.1:c.*18-3162T>C | NP_001341652.1:n.*18-3162T>C | |
| NM_000551.4:c.452T>C MANE Select | NP_000542.1:p.Ile151Thr | |
| NM_001354723.2:c.*18-3162T>C | NP_001341652.1:n.*18-3162T>C | |
| NM_198156.3:c.341-3162T>C | NP_937799.1:n.341-3162T>C |