Revel Score:
ENST00000308677 (MANE Select)
0.519
ENST00000350356
0.519
ENST00000535695
0.519
ENST00000536649
0.519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14097604A>C , CM000681.2:g.14097604A>C | GRCh38 |
| NC_000019.9:g.14208416A>C , CM000681.1:g.14208416A>C | GRCh37 |
| NC_000019.8:g.14069416A>C | NCBI36 |
| NG_029699.1:g.25144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308677.9:c.617T>G MANE Select | ENSP00000309591.3:p.Leu206Arg | |
| ENST00000589994.6:c.593T>G | ENSP00000466651.1:p.Leu198Arg | |
| ENST00000677951.1:c.443T>G | ENSP00000504551.1:p.Leu148Arg | |
| ENST00000677971.1:c.*195T>G | ENSP00000502958.1:n.*195T>G | |
| ENST00000679067.1:n.818T>G | ||
| ENST00000308677.8:c.617T>G | ENSP00000309591.3:p.Leu206Arg | |
| ENST00000350356.7:n.1251T>G | ||
| ENST00000536649.5:n.986T>G | ||
| ENST00000587372.5:c.481T>G | ||
| ENST00000587533.1:n.862T>G | ||
| ENST00000588209.5:n.651T>G | ||
| ENST00000589994.5:c.593T>G | ENSP00000466651.1:p.Leu198Arg | |
| ENST00000590853.5:c.109-4761T>G | ENSP00000466976.1:n.109-4761T>G | |
| ENST00000593092.1:c.566T>G | ENSP00000466289.1:p.Leu189Arg | |
| NM_001304349.1:c.845T>G | NP_001291278.1:p.Leu282Arg | |
| NM_002730.3:c.617T>G | NP_002721.1:p.Leu206Arg | |
| NM_207518.2:c.593T>G | NP_997401.1:p.Leu198Arg | |
| XM_017026948.1:c.617T>G | XP_016882437.1:p.Leu206Arg | |
| NM_002730.4:c.617T>G MANE Select | NP_002721.1:p.Leu206Arg | |
| NM_207518.3:c.593T>G | NP_997401.1:p.Leu198Arg | |
| NM_001304349.2:c.845T>G | NP_001291278.1:p.Leu282Arg |