Revel Score:
ENST00000379806
0.899
ENST00000545074
0.899
ENST00000540249
0.899
ENST00000422285 (MANE Select)
0.899
ENST00000379804
0.899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359613G>T , CM000685.2:g.19359613G>T | GRCh38 |
| NC_000023.10:g.19377731G>T , CM000685.1:g.19377731G>T | GRCh37 |
| NC_000023.9:g.19287652G>T | NCBI36 |
| NG_016781.1:g.20721G>T | |
| NG_021184.1:g.160649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.1154G>T | ENSP00000348062.6:p.Arg385Leu | |
| ENST00000379805.4:c.*825G>T | ENSP00000369133.3:n.*825G>T | |
| ENST00000417819.6:c.1217G>T | ENSP00000404616.2:p.Arg406Leu | |
| ENST00000423505.6:c.1247G>T | ENSP00000406473.2:p.Arg416Leu | |
| ENST00000481733.2:n.928G>T | ||
| ENST00000696704.1:c.*465G>T | ENSP00000512823.1:n.*465G>T | |
| ENST00000696705.1:c.*588G>T | ENSP00000512824.1:n.*588G>T | |
| ENST00000422285.7:c.1133G>T MANE Select | ENSP00000394382.2:p.Arg378Leu | |
| ENST00000379804.1:c.290G>T | ENSP00000369132.1:p.Arg97Leu | |
| ENST00000379806.9:c.1247G>T | ENSP00000369134.5:p.Arg416Leu | |
| ENST00000422285.6:c.1133G>T | ENSP00000394382.2:p.Arg378Leu | |
| ENST00000478795.1:n.572G>T | ||
| ENST00000540249.5:c.1040G>T | ENSP00000440761.1:p.Arg347Leu | |
| ENST00000545074.5:c.1154G>T | ENSP00000438550.1:p.Arg385Leu | |
| NM_000284.3:c.1133G>T | NP_000275.1:p.Arg378Leu | |
| NM_001173454.1:c.1247G>T | NP_001166925.1:p.Arg416Leu | |
| NM_001173455.1:c.1154G>T | NP_001166926.1:p.Arg385Leu | |
| NM_001173456.1:c.1040G>T | NP_001166927.1:p.Arg347Leu | |
| XM_011545531.1:c.1268G>T | XP_011543833.1:p.Arg423Leu | |
| XM_011545532.1:c.1175G>T | XP_011543834.1:p.Arg392Leu | |
| XM_017029574.2:c.1154G>T | XP_016885063.1:p.Arg385Leu | |
| NM_000284.4:c.1133G>T MANE Select | NP_000275.1:p.Arg378Leu | |
| NM_001173454.2:c.1247G>T | NP_001166925.1:p.Arg416Leu | |
| NM_001173455.2:c.1154G>T | NP_001166926.1:p.Arg385Leu | |
| NM_001173456.2:c.1040G>T | NP_001166927.1:p.Arg347Leu |