ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
Revel Score:
ENST00000288135 (MANE Select)
0.939
ENST00000412167
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733167A>T , CM000666.2:g.54733167A>T | GRCh38 |
| NC_000004.11:g.55599333A>T , CM000666.1:g.55599333A>T | GRCh37 |
| NC_000004.10:g.55294090A>T | NCBI36 |
| NG_007456.1:g.80173A>T , LRG_307:g.80173A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2447A>T | ENSP00000390987.3:p.Asp816Val | |
| ENST00000685269.1:n.2537A>T | ||
| ENST00000686011.1:c.2444A>T | ENSP00000509704.1:p.Asp815Val | |
| ENST00000687109.1:c.2462A>T | ENSP00000509371.1:p.Asp821Val | |
| ENST00000687208.1:n.2871A>T | ||
| ENST00000687246.1:c.2349+1169A>T | ENSP00000509114.1:n.2349+1169A>T | |
| ENST00000687265.1:n.2617A>T | ||
| ENST00000687295.1:c.2447A>T | ENSP00000509450.1:p.Asp816Val | |
| ENST00000688060.1:n.256A>T | ||
| ENST00000688704.1:n.1471A>T | ||
| ENST00000689832.1:c.2459A>T | ENSP00000509084.1:p.Asp820Val | |
| ENST00000689994.1:c.1949A>T | ENSP00000509156.1:p.Asp650Val | |
| ENST00000690543.1:c.2450A>T | ENSP00000508831.1:p.Asp817Val | |
| ENST00000690917.1:n.2677A>T | ||
| ENST00000691361.1:n.1369A>T | ||
| ENST00000692783.1:c.2456A>T | ENSP00000508733.1:p.Asp819Val | |
| ENST00000692991.1:n.2556A>T | ||
| ENST00000288135.6:c.2459A>T MANE Select | ENSP00000288135.6:p.Asp820Val | |
| ENST00000288135.5:c.2459A>T | ENSP00000288135.5:p.Asp820Val | |
| ENST00000412167.6:c.2447A>T | ENSP00000390987.2:p.Asp816Val | |
| ENST00000512959.1:n.512A>T | ||
| NM_000222.2:c.2459A>T , LRG_307t1:c.2459A>T | NP_000213.1:p.Asp820Val | |
| NM_001093772.1:c.2447A>T | NP_001087241.1:p.Asp816Val | |
| XM_005265740.1:c.2462A>T | XP_005265797.1:p.Asp821Val | |
| XM_005265741.1:c.2459A>T | XP_005265798.1:p.Asp820Val | |
| XM_005265742.1:c.2450A>T | XP_005265799.1:p.Asp817Val | |
| XM_005265742.3:c.2450A>T | XP_005265799.1:p.Asp817Val | |
| XM_017008178.1:c.2456A>T | XP_016863667.1:p.Asp819Val | |
| XM_017008179.1:c.2447A>T | XP_016863668.1:p.Asp816Val | |
| XM_017008180.1:c.2444A>T | XP_016863669.1:p.Asp815Val | |
| NM_000222.3:c.2459A>T MANE Select | NP_000213.1:p.Asp820Val | |
| NM_001093772.2:c.2447A>T | NP_001087241.1:p.Asp816Val | |
| NM_001385284.1:c.2462A>T | NP_001372213.1:p.Asp821Val | |
| NM_001385285.1:c.2456A>T | NP_001372214.1:p.Asp819Val | |
| NM_001385286.1:c.2444A>T | NP_001372215.1:p.Asp815Val | |
| NM_001385288.1:c.2450A>T | NP_001372217.1:p.Asp817Val | |
| NM_001385290.1:c.2459A>T | NP_001372219.1:p.Asp820Val | |
| NM_001385292.1:c.2447A>T | NP_001372221.1:p.Asp816Val |