Linked Data
ClinVar Variation Id:
376290
ClinVar RCV Id:
RCV000444314
dbSNP Id:
rs121913225
COSMIC:
COSM1123
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753351A>G , CM000669.2:g.140753351A>G | GRCh38 |
| NC_000007.13:g.140453151A>G , CM000669.1:g.140453151A>G | GRCh37 |
| NC_000007.12:g.140099620A>G | NCBI36 |
| NG_007873.3:g.176414T>C , LRG_299:g.176414T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1784T>C MANE Select | ENSP00000493543.1:p.Phe595Ser | |
| ENST00000288602.11:c.1904T>C | ENSP00000288602.7:p.Phe635Ser | |
| ENST00000479537.6:c.454T>C | ||
| ENST00000496384.7:c.1784T>C | ENSP00000419060.2:p.Phe595Ser | |
| ENST00000497784.2:c.*1234T>C | ENSP00000420119.2:n.*1234T>C | |
| ENST00000642228.1:c.*862T>C | ENSP00000493678.1:n.*862T>C | |
| ENST00000642875.1:n.1259-3933T>C | ||
| ENST00000644120.1:n.2174T>C | ||
| ENST00000644650.1:c.880T>C | ||
| ENST00000644905.1:n.2666T>C | ||
| ENST00000644969.2:c.1904T>C MANE Plus Clinical | ENSP00000496776.1:p.Phe635Ser | |
| ENST00000646730.1:c.*360T>C | ENSP00000494784.1:n.*360T>C | |
| ENST00000646891.1:c.1784T>C | ENSP00000493543.1:p.Phe595Ser | |
| ENST00000647434.1:c.738-3933T>C | ENSP00000495132.1:n.738-3933T>C | |
| ENST00000288602.10:c.1784T>C | ENSP00000288602.6:p.Phe595Ser | |
| ENST00000479537.5:c.68T>C | ENSP00000418033.1:p.Phe23Ser | |
| ENST00000496384.6:c.607T>C | ||
| ENST00000497784.1:c.1819T>C | ENSP00000420119.1:n.1819T>C | |
| NM_004333.4:c.1784T>C , LRG_299t1:c.1784T>C | NP_004324.2:p.Phe595Ser | |
| XM_005250045.1:c.1784T>C | XP_005250102.1:p.Phe595Ser | |
| XM_005250046.1:c.1784T>C | XP_005250103.1:p.Phe595Ser | |
| XM_011516529.1:c.1784T>C | XP_011514831.1:p.Phe595Ser | |
| XM_011516530.1:c.1695-3933T>C | XP_011514832.1:n.1695-3933T>C | |
| XR_242190.1:n.1792T>C | ||
| XR_927520.1:n.1792T>C | ||
| XR_927521.1:n.1792T>C | ||
| XR_927522.1:n.1703-3933T>C | ||
| XR_927523.1:n.1703-3933T>C | ||
| NM_001354609.1:c.1784T>C | NP_001341538.1:p.Phe595Ser | |
| NM_004333.5:c.1784T>C | NP_004324.2:p.Phe595Ser | |
| NR_148928.1:n.2882T>C | ||
| XM_017012558.1:c.1904T>C | XP_016868047.1:p.Phe635Ser | |
| XM_017012559.1:c.1904T>C | XP_016868048.1:p.Phe635Ser | |
| XR_001744857.1:n.1912T>C | ||
| XR_001744858.1:n.1823-3933T>C | ||
| NM_001354609.2:c.1784T>C | NP_001341538.1:p.Phe595Ser | |
| NM_001374244.1:c.1904T>C | NP_001361173.1:p.Phe635Ser | |
| NM_001374258.1:c.1904T>C MANE Plus Clinical | NP_001361187.1:p.Phe635Ser | |
| NM_004333.6:c.1784T>C MANE Select | NP_004324.2:p.Phe595Ser | |
| NM_001378467.1:c.1793T>C | NP_001365396.1:p.Phe598Ser | |
| NM_001378468.1:c.1784T>C | NP_001365397.1:p.Phe595Ser | |
| NM_001378469.1:c.1718T>C | NP_001365398.1:p.Phe573Ser | |
| NM_001378470.1:c.1682T>C | NP_001365399.1:p.Phe561Ser | |
| NM_001378471.1:c.1673T>C | NP_001365400.1:p.Phe558Ser | |
| NM_001378472.1:c.1628T>C | NP_001365401.1:p.Phe543Ser | |
| NM_001378473.1:c.1628T>C | NP_001365402.1:p.Phe543Ser | |
| NM_001378474.1:c.1784T>C | NP_001365403.1:p.Phe595Ser | |
| NM_001378475.1:c.1520T>C | NP_001365404.1:p.Phe507Ser |