Linked Data
ClinVar Variation Id:
427588
dbSNP Id:
rs1085308046
gnomAD v4:
10-87933160-T-C
COSMIC:
COSM1577257
PubMed:
PMID:28526761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933160T>C , CM000672.2:g.87933160T>C | GRCh38 |
| NC_000010.10:g.89692917T>C , CM000672.1:g.89692917T>C | GRCh37 |
| NC_000010.9:g.89682897T>C | NCBI36 |
| NG_007466.2:g.74722T>C , LRG_311:g.74722T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.401T>C | ENSP00000514759.2:p.Met134Thr | |
| ENST00000710265.1:c.401T>C | ENSP00000518161.1:p.Met134Thr | |
| ENST00000472832.3:c.401T>C | ENSP00000483066.2:p.Met134Thr | |
| ENST00000688158.2:n.1136T>C | ||
| ENST00000688922.2:c.*231T>C | ENSP00000508742.2:n.*231T>C | |
| ENST00000700021.1:c.356T>C | ENSP00000514757.1:p.Met119Thr | |
| ENST00000700022.1:c.401T>C | ENSP00000514758.1:p.Met134Thr | |
| ENST00000700029.1:c.235T>C | ||
| ENST00000706954.1:c.401T>C | ENSP00000516674.1:p.Met134Thr | |
| ENST00000706955.1:c.*436T>C | ENSP00000516675.1:n.*436T>C | |
| ENST00000686459.1:c.401T>C | ENSP00000508909.1:p.Met134Thr | |
| ENST00000688158.1:c.*512T>C | ENSP00000509254.1:n.*512T>C | |
| ENST00000688308.1:c.401T>C | ENSP00000508752.1:p.Met134Thr | |
| ENST00000688922.1:c.322T>C | ||
| ENST00000693560.1:c.920T>C | ENSP00000509861.1:p.Met307Thr | |
| ENST00000371953.8:c.401T>C MANE Select | ENSP00000361021.3:p.Met134Thr | |
| ENST00000371953.7:c.401T>C | ENSP00000361021.3:p.Met134Thr | |
| ENST00000498703.1:n.227T>C | ||
| ENST00000610634.1:c.299T>C | ENSP00000477517.1:p.Met100Thr | |
| NM_000314.5:c.401T>C | NP_000305.3:p.Met134Thr | |
| NM_000314.6:c.401T>C | NP_000305.3:p.Met134Thr | |
| NM_001304717.2:c.920T>C | NP_001291646.2:p.Met307Thr | |
| NM_001304718.1:c.-350T>C | NP_001291647.1:n.-350T>C | |
| XM_006717926.2:c.356T>C | XP_006717989.1:p.Met119Thr | |
| XM_011539981.1:c.401T>C | XP_011538283.1:p.Met134Thr | |
| XM_011539982.1:c.305T>C | XP_011538284.1:p.Met102Thr | |
| XR_945789.1:n.1113T>C | ||
| XR_945790.1:n.1113T>C | ||
| XR_945791.1:n.1113T>C | ||
| NM_000314.7:c.401T>C | NP_000305.3:p.Met134Thr | |
| NM_001304717.5:c.920T>C | NP_001291646.4:p.Met307Thr | |
| NM_001304718.2:c.-350T>C | NP_001291647.1:n.-350T>C | |
| NM_000314.8:c.401T>C MANE Select | NP_000305.3:p.Met134Thr |