COSMIC:
COSM4145311 (not active)
Revel Score:
ENST00000280346 (MANE Select)
0.046
ENST00000531306
0.046
ENST00000537636
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77876496 (AFR)
Genomes Max Group AF
0.76948906 (AFR)
Exomes Max Group AF
0.7853706 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112037438T>C , CM000673.2:g.112037438T>C | GRCh38 |
| NC_000011.9:g.111908162T>C , CM000673.1:g.111908162T>C | GRCh37 |
| NC_000011.8:g.111413372T>C | NCBI36 |
| NG_013342.1:g.17625T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.953T>C | ENSP00000518862.1:p.Val318Ala | |
| ENST00000280346.11:c.953T>C MANE Select | ENSP00000280346.7:p.Val318Ala | |
| ENST00000527231.2:n.1000T>C | ||
| ENST00000531306.2:c.572T>C | ENSP00000433432.2:p.Val191Ala | |
| ENST00000679368.1:c.788-1806T>C | ENSP00000505314.1:n.788-1806T>C | |
| ENST00000679466.1:n.1000T>C | ||
| ENST00000679614.1:c.350T>C | ENSP00000506007.1:p.Val117Ala | |
| ENST00000679815.1:c.*386T>C | ENSP00000504880.1:n.*386T>C | |
| ENST00000679829.1:n.1080T>C | ||
| ENST00000679878.1:c.920T>C | ENSP00000505567.1:p.Val307Ala | |
| ENST00000680010.1:c.*94T>C | ENSP00000505768.1:n.*94T>C | |
| ENST00000680331.1:c.674T>C | ENSP00000506707.1:p.Val225Ala | |
| ENST00000680411.1:c.698T>C | ENSP00000505915.1:p.Val233Ala | |
| ENST00000681316.1:c.953T>C | ENSP00000506560.1:p.Val318Ala | |
| ENST00000681328.1:c.953T>C | ENSP00000506355.1:p.Val318Ala | |
| ENST00000681339.1:c.953T>C | ENSP00000506167.1:p.Val318Ala | |
| ENST00000681638.1:c.*306T>C | ENSP00000506090.1:n.*306T>C | |
| ENST00000280346.10:c.953T>C | ENSP00000280346.6:p.Val318Ala | |
| ENST00000393051.5:c.661-1806T>C | ENSP00000376771.1:n.661-1806T>C | |
| ENST00000531306.1:c.449T>C | ENSP00000433432.1:p.Val150Ala | |
| ENST00000533297.1:c.*628T>C | ENSP00000435374.1:n.*628T>C | |
| NM_001931.4:c.953T>C | NP_001922.2:p.Val318Ala | |
| XM_011542647.1:c.953T>C | XP_011540949.1:p.Val318Ala | |
| XM_011542647.3:c.953T>C | XP_011540949.1:p.Val318Ala | |
| NM_001372031.1:c.953T>C | NP_001358960.1:p.Val318Ala | |
| NM_001372032.1:c.953T>C | NP_001358961.1:p.Val318Ala | |
| NM_001372033.1:c.953T>C | NP_001358962.1:p.Val318Ala | |
| NM_001372034.1:c.920T>C | NP_001358963.1:p.Val307Ala | |
| NM_001372035.1:c.953T>C | NP_001358964.1:p.Val318Ala | |
| NM_001372036.1:c.827T>C | NP_001358965.1:p.Val276Ala | |
| NM_001372037.1:c.785T>C | NP_001358966.1:p.Val262Ala | |
| NM_001372038.1:c.674T>C | NP_001358967.1:p.Val225Ala | |
| NM_001372039.1:c.661-1806T>C | NP_001358968.1:n.661-1806T>C | |
| NM_001372040.1:c.572T>C | NP_001358969.1:p.Val191Ala | |
| NM_001372041.1:c.661-1806T>C | NP_001358970.1:n.661-1806T>C | |
| NM_001372042.1:c.491T>C | NP_001358971.1:p.Val164Ala | |
| NM_001931.5:c.953T>C MANE Select | NP_001922.2:p.Val318Ala | |
| NR_164072.1:n.853-1806T>C |