UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
40388
dbSNP Id:
rs121913375
COSMIC:
COSM472
ERepo:
CA281995/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753339G>A , CM000669.2:g.140753339G>A | GRCh38 |
| NC_000007.13:g.140453139G>A , CM000669.1:g.140453139G>A | GRCh37 |
| NC_000007.12:g.140099608G>A | NCBI36 |
| NG_007873.3:g.176426C>T , LRG_299:g.176426C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1796C>T MANE Select | ENSP00000493543.1:p.Thr599Ile | |
| ENST00000288602.11:c.1916C>T | ENSP00000288602.7:p.Thr639Ile | |
| ENST00000479537.6:c.466C>T | ||
| ENST00000496384.7:c.1796C>T | ENSP00000419060.2:p.Thr599Ile | |
| ENST00000497784.2:c.*1246C>T | ENSP00000420119.2:n.*1246C>T | |
| ENST00000642228.1:c.*874C>T | ENSP00000493678.1:n.*874C>T | |
| ENST00000642875.1:n.1259-3921C>T | ||
| ENST00000644120.1:n.2186C>T | ||
| ENST00000644650.1:c.892C>T | ||
| ENST00000644905.1:n.2678C>T | ||
| ENST00000644969.2:c.1916C>T MANE Plus Clinical | ENSP00000496776.1:p.Thr639Ile | |
| ENST00000646730.1:c.*372C>T | ENSP00000494784.1:n.*372C>T | |
| ENST00000646891.1:c.1796C>T | ENSP00000493543.1:p.Thr599Ile | |
| ENST00000647434.1:c.738-3921C>T | ENSP00000495132.1:n.738-3921C>T | |
| ENST00000288602.10:c.1796C>T | ENSP00000288602.6:p.Thr599Ile | |
| ENST00000479537.5:c.80C>T | ENSP00000418033.1:p.Thr27Ile | |
| ENST00000496384.6:c.619C>T | ||
| ENST00000497784.1:c.1831C>T | ENSP00000420119.1:n.1831C>T | |
| NM_004333.4:c.1796C>T , LRG_299t1:c.1796C>T | NP_004324.2:p.Thr599Ile | |
| XM_005250045.1:c.1796C>T | XP_005250102.1:p.Thr599Ile | |
| XM_005250046.1:c.1796C>T | XP_005250103.1:p.Thr599Ile | |
| XM_011516529.1:c.1796C>T | XP_011514831.1:p.Thr599Ile | |
| XM_011516530.1:c.1695-3921C>T | XP_011514832.1:n.1695-3921C>T | |
| XR_242190.1:n.1804C>T | ||
| XR_927520.1:n.1804C>T | ||
| XR_927521.1:n.1804C>T | ||
| XR_927522.1:n.1703-3921C>T | ||
| XR_927523.1:n.1703-3921C>T | ||
| NM_001354609.1:c.1796C>T | NP_001341538.1:p.Thr599Ile | |
| NM_004333.5:c.1796C>T | NP_004324.2:p.Thr599Ile | |
| NR_148928.1:n.2894C>T | ||
| XM_017012558.1:c.1916C>T | XP_016868047.1:p.Thr639Ile | |
| XM_017012559.1:c.1916C>T | XP_016868048.1:p.Thr639Ile | |
| XR_001744857.1:n.1924C>T | ||
| XR_001744858.1:n.1823-3921C>T | ||
| NM_001354609.2:c.1796C>T | NP_001341538.1:p.Thr599Ile | |
| NM_001374244.1:c.1916C>T | NP_001361173.1:p.Thr639Ile | |
| NM_001374258.1:c.1916C>T MANE Plus Clinical | NP_001361187.1:p.Thr639Ile | |
| NM_004333.6:c.1796C>T MANE Select | NP_004324.2:p.Thr599Ile | |
| NM_001378467.1:c.1805C>T | NP_001365396.1:p.Thr602Ile | |
| NM_001378468.1:c.1796C>T | NP_001365397.1:p.Thr599Ile | |
| NM_001378469.1:c.1730C>T | NP_001365398.1:p.Thr577Ile | |
| NM_001378470.1:c.1694C>T | NP_001365399.1:p.Thr565Ile | |
| NM_001378471.1:c.1685C>T | NP_001365400.1:p.Thr562Ile | |
| NM_001378472.1:c.1640C>T | NP_001365401.1:p.Thr547Ile | |
| NM_001378473.1:c.1640C>T | NP_001365402.1:p.Thr547Ile | |
| NM_001378474.1:c.1796C>T | NP_001365403.1:p.Thr599Ile | |
| NM_001378475.1:c.1532C>T | NP_001365404.1:p.Thr511Ile |