Revel Score:
ENST00000378588 (MANE Select)
0.988
ENST00000545017
0.988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796093A>G , CM000685.2:g.37796093A>G | GRCh38 |
| NC_000023.10:g.37655346A>G , CM000685.1:g.37655346A>G | GRCh37 |
| NC_000023.9:g.37540286A>G | NCBI36 |
| NG_009065.1:g.21073A>G , LRG_53:g.21073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*135A>G | ENSP00000512461.1:n.*135A>G | |
| ENST00000696171.1:c.530A>G | ENSP00000512462.1:p.His177Arg | |
| ENST00000696172.1:c.338-2862A>G | ENSP00000512463.1:n.338-2862A>G | |
| ENST00000378588.5:c.626A>G MANE Select | ENSP00000367851.4:p.His209Arg | |
| ENST00000378588.4:c.626A>G | ENSP00000367851.4:p.His209Arg | |
| ENST00000465127.1:c.171+370093A>G | ENSP00000417050.1:n.171+370093A>G | |
| NM_000397.3:c.626A>G , LRG_53t1:c.626A>G | NP_000388.2:p.His209Arg | |
| XM_011543890.1:c.320A>G | XP_011542192.1:p.His107Arg | |
| NM_000397.4:c.626A>G MANE Select | NP_000388.2:p.His209Arg |