Linked Data
ClinVar Variation Id:
246215
dbSNP Id:
rs374378925
ExAC:
7:30668230 T / C
gnomAD v2:
7-30668230-T-C
gnomAD v3:
7-30628614-T-C
gnomAD v4:
7-30628614-T-C
COSMIC:
COSM1089084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30628614T>C , CM000669.2:g.30628614T>C | GRCh38 |
| NC_000007.13:g.30668230T>C , CM000669.1:g.30668230T>C | GRCh37 |
| NC_000007.12:g.30634755T>C | NCBI36 |
| NG_007942.1:g.39050T>C , LRG_243:g.39050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1754T>C MANE Select | ENSP00000373918.3:p.Met585Thr | |
| ENST00000444666.6:c.*175T>C | ENSP00000415447.2:n.*175T>C | |
| ENST00000465748.2:n.1235T>C | ||
| ENST00000470392.2:n.1844T>C | ||
| ENST00000485784.2:n.1833T>C | ||
| ENST00000496643.2:n.71T>C | ||
| ENST00000674616.1:c.*1468T>C | ENSP00000502408.1:n.*1468T>C | |
| ENST00000674643.1:c.*854T>C | ENSP00000501636.1:n.*854T>C | |
| ENST00000674737.1:c.*1092T>C | ENSP00000502464.1:n.*1092T>C | |
| ENST00000674807.1:c.*27T>C | ENSP00000502814.1:n.*27T>C | |
| ENST00000674815.1:c.1385T>C | ENSP00000502799.1:p.Met462Thr | |
| ENST00000674851.1:c.1385T>C | ENSP00000502451.1:p.Met462Thr | |
| ENST00000674969.1:n.3627T>C | ||
| ENST00000675051.1:c.1553T>C | ENSP00000502296.1:p.Met518Thr | |
| ENST00000675529.1:c.*1624T>C | ENSP00000501655.1:n.*1624T>C | |
| ENST00000675587.1:n.2586T>C | ||
| ENST00000675651.1:c.1754T>C | ENSP00000502513.1:p.Met585Thr | |
| ENST00000675693.1:c.1586T>C | ENSP00000502174.1:p.Met529Thr | |
| ENST00000675810.1:c.1652T>C | ENSP00000502743.1:p.Met551Thr | |
| ENST00000675859.1:c.*27T>C | ENSP00000502033.1:n.*27T>C | |
| ENST00000675863.1:n.1762T>C | ||
| ENST00000675886.1:n.7794T>C | ||
| ENST00000676088.1:c.*1696T>C | ENSP00000501884.1:n.*1696T>C | |
| ENST00000676140.1:c.*699T>C | ENSP00000502571.1:n.*699T>C | |
| ENST00000676164.1:c.*1205T>C | ENSP00000501986.1:n.*1205T>C | |
| ENST00000676210.1:c.*1043T>C | ENSP00000502373.1:n.*1043T>C | |
| ENST00000676259.1:c.*1186T>C | ENSP00000501980.1:n.*1186T>C | |
| ENST00000676403.1:c.1754T>C | ENSP00000502681.1:p.Met585Thr | |
| ENST00000389266.7:c.1754T>C | ENSP00000373918.3:p.Met585Thr | |
| ENST00000444666.5:c.409T>C | ENSP00000415447.1:n.409T>C | |
| ENST00000465748.1:n.125T>C | ||
| NM_001316772.1:c.1592T>C | NP_001303701.1:p.Met531Thr | |
| NM_002047.2:c.1754T>C , LRG_243t1:c.1754T>C | NP_002038.2:p.Met585Thr | |
| NM_002047.3:c.1754T>C | NP_002038.2:p.Met585Thr | |
| XM_006715686.1:c.1385T>C | XP_006715749.1:p.Met462Thr | |
| XM_006715686.2:c.1385T>C | XP_006715749.1:p.Met462Thr | |
| NM_002047.4:c.1754T>C MANE Select | NP_002038.2:p.Met585Thr |