Revel Score:
ENST00000358161
0.637
ENST00000372731
0.637
ENST00000372739 (MANE Select)
0.637
ENST00000372719
0.637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632483A>G , CM000671.2:g.128632483A>G | GRCh38 |
| NC_000009.11:g.131394762A>G , CM000671.1:g.131394762A>G | GRCh37 |
| NC_000009.10:g.130434583A>G | NCBI36 |
| NG_027748.1:g.84926A>G | |
| NG_034056.1:g.29368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.7048A>G | ENSP00000486547.2:p.Lys2350Glu | |
| ENST00000630866.2:c.7075A>G | ENSP00000487444.1:p.Lys2359Glu | |
| ENST00000704202.1:c.7099A>G | ENSP00000515764.1:p.Lys2367Glu | |
| ENST00000704203.1:c.7048A>G | ENSP00000515765.1:p.Lys2350Glu | |
| ENST00000704204.1:c.6538A>G | ENSP00000515766.1:p.Lys2180Glu | |
| ENST00000704206.1:c.4617A>G | ||
| ENST00000704207.1:c.2954A>G | ||
| ENST00000706487.1:c.7012A>G | ENSP00000516412.1:p.Lys2338Glu | |
| ENST00000372739.7:c.7012A>G MANE Select | ENSP00000361824.4:p.Lys2338Glu | |
| ENST00000636010.1:n.736A>G | ||
| ENST00000358161.9:c.6937A>G | ENSP00000350882.6:p.Lys2313Glu | |
| ENST00000372731.8:c.6997A>G | ENSP00000361816.4:p.Lys2333Glu | |
| ENST00000372739.5:c.7012A>G | ENSP00000361824.3:p.Lys2338Glu | |
| ENST00000625980.2:n.966A>G | ||
| ENST00000630763.1:n.769A>G | ||
| ENST00000630804.2:c.6952A>G | ENSP00000486308.1:p.Lys2318Glu | |
| ENST00000630866.1:c.7075A>G | ENSP00000487444.1:p.Lys2359Glu | |
| NM_001130438.2:c.7012A>G | NP_001123910.1:p.Lys2338Glu | |
| NM_001195532.1:c.6937A>G | NP_001182461.1:p.Lys2313Glu | |
| NM_003127.3:c.6997A>G | NP_003118.2:p.Lys2333Glu | |
| XM_006717245.1:c.7111A>G | XP_006717308.1:p.Lys2371Glu | |
| XM_006717246.1:c.7096A>G | XP_006717309.1:p.Lys2366Glu | |
| XM_006717247.1:c.7051A>G | XP_006717310.1:p.Lys2351Glu | |
| XM_006717248.1:c.7048A>G | XP_006717311.1:p.Lys2350Glu | |
| XM_006717249.1:c.7033A>G | XP_006717312.1:p.Lys2345Glu | |
| XM_006717250.1:c.7030A>G | XP_006717313.1:p.Lys2344Glu | |
| XM_006717251.1:c.7015A>G | XP_006717314.1:p.Lys2339Glu | |
| XM_006717252.1:c.6988A>G | XP_006717315.1:p.Lys2330Glu | |
| XM_006717253.1:c.6973A>G | XP_006717316.1:p.Lys2325Glu | |
| XM_006717254.1:c.7075A>G | XP_006717317.1:p.Lys2359Glu | |
| NM_001363759.1:c.7075A>G | NP_001350688.1:p.Lys2359Glu | |
| NM_001363765.1:c.6952A>G | NP_001350694.1:p.Lys2318Glu | |
| XM_006717247.2:c.7051A>G | XP_006717310.1:p.Lys2351Glu | |
| XM_006717248.2:c.7048A>G | XP_006717311.1:p.Lys2350Glu | |
| XM_006717251.2:c.7015A>G | XP_006717314.1:p.Lys2339Glu | |
| XM_006717252.3:c.6988A>G | XP_006717315.1:p.Lys2330Glu | |
| XM_017015059.1:c.6994A>G | XP_016870548.1:p.Lys2332Glu | |
| XM_017015060.1:c.6970A>G | XP_016870549.1:p.Lys2324Glu | |
| NM_001130438.3:c.7012A>G MANE Select | NP_001123910.1:p.Lys2338Glu | |
| NM_001195532.2:c.6937A>G | NP_001182461.1:p.Lys2313Glu | |
| NM_001363759.2:c.7075A>G | NP_001350688.1:p.Lys2359Glu | |
| NM_001363765.2:c.6952A>G | NP_001350694.1:p.Lys2318Glu | |
| NM_001375310.1:c.7099A>G | NP_001362239.1:p.Lys2367Glu | |
| NM_001375311.2:c.7012A>G | NP_001362240.1:p.Lys2338Glu | |
| NM_001375312.2:c.7048A>G | NP_001362241.2:p.Lys2350Glu | |
| NM_001375313.1:c.6994A>G | NP_001362242.1:p.Lys2332Glu | |
| NM_001375314.2:c.6952A>G | NP_001362243.1:p.Lys2318Glu | |
| NM_001375318.1:c.7111A>G | NP_001362247.1:p.Lys2371Glu | |
| NM_003127.4:c.6997A>G | NP_003118.2:p.Lys2333Glu |