COSMIC:
COSM4415165 (not active)
Revel Score:
ENST00000231420 (MANE Select)
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6071474 (EAS)
Genomes Max Group AF
0.56314679 (EAS)
Exomes Max Group AF
0.61099421 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35037010C>T , CM000667.2:g.35037010C>T | GRCh38 |
| NC_000005.9:g.35037115C>T , CM000667.1:g.35037115C>T | GRCh37 |
| NC_000005.8:g.35072872C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231420.11:c.418G>A MANE Select | ENSP00000231420.6:p.Val140Ile | |
| ENST00000231420.10:c.418G>A | ENSP00000231420.6:p.Val140Ile | |
| ENST00000505542.1:n.327G>A | ||
| ENST00000510428.1:c.418G>A | ENSP00000422799.1:p.Val140Ile | |
| ENST00000618015.4:c.418G>A | ENSP00000479154.1:p.Val140Ile | |
| NM_001306173.1:c.418G>A | NP_001293102.1:p.Val140Ile | |
| NM_031900.3:c.418G>A | NP_114106.1:p.Val140Ile | |
| XM_005248337.2:c.415G>A | XP_005248394.1:p.Val139Ile | |
| XM_005248338.2:c.418G>A | XP_005248395.1:p.Val140Ile | |
| XM_011514077.1:c.418G>A | XP_011512379.1:p.Val140Ile | |
| XM_005248337.3:c.415G>A | XP_005248394.1:p.Val139Ile | |
| XM_005248338.3:c.418G>A | XP_005248395.1:p.Val140Ile | |
| XM_017009748.2:c.418G>A | XP_016865237.1:p.Val140Ile | |
| NM_031900.4:c.418G>A MANE Select | NP_114106.1:p.Val140Ile | |
| NM_001306173.2:c.418G>A | NP_001293102.1:p.Val140Ile |