COSMIC:
COSM3754523 (not active)
COSM5828306 (not active)
Revel Score:
ENST00000286744 (MANE Select)
0.188
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78658387 (AFR)
Genomes Max Group AF
0.77988838 (AFR)
Exomes Max Group AF
0.78996009 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.83913372G>T , CM000677.2:g.83913372G>T | GRCh38 |
| NC_000015.9:g.84582124G>T , CM000677.1:g.84582124G>T | GRCh37 |
| NC_000015.8:g.82373128G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286744.10:c.1981G>T MANE Select | ENSP00000286744.5:p.Val661Leu | |
| ENST00000286744.9:c.1981G>T | ENSP00000286744.5:p.Val661Leu | |
| ENST00000561483.5:n.2196G>T | ||
| ENST00000567476.1:c.1981G>T | ENSP00000456313.1:p.Val661Leu | |
| NM_001301110.1:c.1981G>T | NP_001288039.1:p.Val661Leu | |
| NM_207517.2:c.1981G>T | NP_997400.2:p.Val661Leu | |
| XM_011521821.1:c.2062G>T | XP_011520123.1:p.Val688Leu | |
| XM_011521822.1:c.2062G>T | XP_011520124.1:p.Val688Leu | |
| XM_011521823.1:c.2062G>T | XP_011520125.1:p.Val688Leu | |
| XM_011521824.1:c.2062G>T | XP_011520126.1:p.Val688Leu | |
| XM_011521825.1:c.2062G>T | XP_011520127.1:p.Val688Leu | |
| XR_931873.1:n.2095G>T | ||
| XM_011521822.2:c.2062G>T | XP_011520124.1:p.Val688Leu | |
| XM_011521823.2:c.2062G>T | XP_011520125.1:p.Val688Leu | |
| XM_011521824.2:c.2062G>T | XP_011520126.1:p.Val688Leu | |
| XM_011521825.2:c.2062G>T | XP_011520127.1:p.Val688Leu | |
| XM_017022434.1:c.2062G>T | XP_016877923.1:p.Val688Leu | |
| XM_017022435.1:c.1486G>T | XP_016877924.1:p.Val496Leu | |
| XM_024450000.1:c.2062G>T | XP_024305768.1:p.Val688Leu | |
| XR_931873.2:n.2277G>T | ||
| NM_207517.3:c.1981G>T MANE Select | NP_997400.2:p.Val661Leu | |
| NM_001301110.2:c.1981G>T | NP_001288039.1:p.Val661Leu |