ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042751 (NFE)
Genomes Max Group AF
0.00021805 (NFE)
Exomes Max Group AF
0.00043475 (NFE)
Revel Score:
ENST00000220822 (MANE Select)
0.605
ENST00000434412
0.605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74360225G>A , CM000670.2:g.74360225G>A | GRCh38 |
| NC_000008.10:g.75272460G>A , CM000670.1:g.75272460G>A | GRCh37 |
| NC_000008.9:g.75435015G>A | NCBI36 |
| NG_008787.2:g.44096G>A | |
| NG_008787.3:g.44096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.399G>A MANE Select | ENSP00000220822.7:p.Met133Ile | |
| ENST00000434412.3:c.267G>A | ENSP00000417006.3:p.Met89Ile | |
| ENST00000520797.6:n.510G>A | ||
| ENST00000521096.6:n.341-1659G>A | ||
| ENST00000522568.2:c.*71G>A | ENSP00000430136.1:n.*71G>A | |
| ENST00000523640.2:c.165+8904G>A | ENSP00000502017.1:n.165+8904G>A | |
| ENST00000524195.2:c.166-2714G>A | ENSP00000502308.1:n.166-2714G>A | |
| ENST00000674612.1:c.72G>A | ENSP00000501864.1:p.Met24Ile | |
| ENST00000674710.1:c.399G>A | ENSP00000502762.1:p.Met133Ile | |
| ENST00000674754.1:c.*71G>A | ENSP00000502063.1:n.*71G>A | |
| ENST00000674756.1:c.*71G>A | ENSP00000501860.1:n.*71G>A | |
| ENST00000674806.1:c.72G>A | ENSP00000502637.1:p.Met24Ile | |
| ENST00000674865.1:c.195G>A | ENSP00000502437.1:p.Met65Ile | |
| ENST00000674926.1:c.*71G>A | ENSP00000501799.1:n.*71G>A | |
| ENST00000674934.1:c.*87G>A | ENSP00000502187.1:n.*87G>A | |
| ENST00000674944.1:c.*71G>A | ENSP00000501858.1:n.*71G>A | |
| ENST00000674946.1:c.399G>A | ENSP00000501569.1:p.Met133Ile | |
| ENST00000674973.1:c.178+76G>A | ENSP00000502447.1:n.178+76G>A | |
| ENST00000675007.1:c.*71G>A | ENSP00000502119.1:n.*71G>A | |
| ENST00000675060.1:c.*64G>A | ENSP00000501616.1:n.*64G>A | |
| ENST00000675165.1:c.399G>A | ENSP00000502612.1:p.Met133Ile | |
| ENST00000675220.1:c.72G>A | ENSP00000502588.1:p.Met24Ile | |
| ENST00000675265.1:c.*71G>A | ENSP00000501848.1:n.*71G>A | |
| ENST00000675336.1:c.166-1659G>A | ENSP00000502120.1:n.166-1659G>A | |
| ENST00000675376.1:c.72G>A | ENSP00000502838.1:p.Met24Ile | |
| ENST00000675463.1:c.399G>A | ENSP00000502327.1:p.Met133Ile | |
| ENST00000675472.1:c.118-1659G>A | ENSP00000501946.1:n.118-1659G>A | |
| ENST00000675560.1:c.*71G>A | ENSP00000502118.1:n.*71G>A | |
| ENST00000675565.1:n.216G>A | ||
| ENST00000675625.1:c.*71G>A | ENSP00000501626.1:n.*71G>A | |
| ENST00000675633.1:c.399G>A | ENSP00000501785.1:p.Met133Ile | |
| ENST00000675661.1:c.*71G>A | ENSP00000501958.1:n.*71G>A | |
| ENST00000675706.1:n.466G>A | ||
| ENST00000675821.1:c.72G>A | ENSP00000502198.1:p.Met24Ile | |
| ENST00000675832.1:c.*71G>A | ENSP00000502041.1:n.*71G>A | |
| ENST00000675928.1:c.311-1659G>A | ENSP00000501568.1:n.311-1659G>A | |
| ENST00000675944.1:c.195G>A | ENSP00000502673.1:p.Met65Ile | |
| ENST00000675999.1:c.399G>A | ENSP00000502572.1:p.Met133Ile | |
| ENST00000676049.1:c.*301G>A | ENSP00000501912.1:n.*301G>A | |
| ENST00000676112.1:c.399G>A | ENSP00000502295.1:p.Met133Ile | |
| ENST00000676120.1:c.*71G>A | ENSP00000502036.1:n.*71G>A | |
| ENST00000676143.1:c.72G>A | ENSP00000502828.1:p.Met24Ile | |
| ENST00000676207.1:c.399G>A | ENSP00000502638.1:p.Met133Ile | |
| ENST00000676377.1:c.72G>A | ENSP00000502756.1:p.Met24Ile | |
| ENST00000676415.1:c.399G>A | ENSP00000502665.1:p.Met133Ile | |
| ENST00000676443.1:c.351G>A | ENSP00000501769.1:p.Met117Ile | |
| ENST00000220822.11:c.399G>A | ENSP00000220822.7:p.Met133Ile | |
| ENST00000434412.2:c.195G>A | ENSP00000417006.2:p.Met65Ile | |
| ENST00000520797.5:n.164G>A | ||
| ENST00000521096.5:n.205G>A | ||
| ENST00000522568.1:c.*71G>A | ENSP00000430136.1:n.*71G>A | |
| ENST00000523640.1:n.234G>A | ||
| ENST00000524366.5:n.329-1659G>A | ||
| NM_001040875.2:c.195G>A | NP_001035808.1:p.Met65Ile | |
| NM_018972.2:c.399G>A | NP_061845.2:p.Met133Ile | |
| NR_046346.1:n.333G>A | ||
| XM_011517551.1:c.779-1659G>A | XP_011515853.1:n.779-1659G>A | |
| XM_011517552.1:c.72G>A | XP_011515854.1:p.Met24Ile | |
| NM_001040875.3:c.195G>A | NP_001035808.1:p.Met65Ile | |
| NM_001362929.1:c.72G>A | NP_001349858.1:p.Met24Ile | |
| NM_001362930.1:c.311-1659G>A | NP_001349859.1:n.311-1659G>A | |
| NM_001362931.1:c.399G>A | NP_001349860.1:p.Met133Ile | |
| NM_001362932.1:c.72G>A | NP_001349861.1:p.Met24Ile | |
| NM_018972.3:c.399G>A | NP_061845.2:p.Met133Ile | |
| XM_017013586.2:c.399G>A | XP_016869075.2:p.Met133Ile | |
| NM_001362931.2:c.399G>A | NP_001349860.1:p.Met133Ile | |
| NM_018972.4:c.399G>A MANE Select | NP_061845.2:p.Met133Ile | |
| NM_001040875.4:c.195G>A | NP_001035808.1:p.Met65Ile | |
| NM_001362929.2:c.72G>A | NP_001349858.1:p.Met24Ile | |
| NM_001362930.2:c.311-1659G>A | NP_001349859.1:n.311-1659G>A | |
| NM_001362932.2:c.72G>A | NP_001349861.1:p.Met24Ile |