Revel Score:
ENST00000367057 (MANE Select)
0.092
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207473578G>T , CM000663.2:g.207473578G>T | GRCh38 |
| NC_000001.10:g.207646923G>T , CM000663.1:g.207646923G>T | GRCh37 |
| NC_000001.9:g.205713546G>T | NCBI36 |
| NG_013006.1:g.24279G>T , LRG_348:g.24279G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699620.1:c.1610-223G>T | ENSP00000514480.1:n.1610-223G>T | |
| ENST00000699621.1:c.1599-223G>T | ||
| ENST00000367057.8:c.2012G>T MANE Select | ENSP00000356024.3:p.Arg671Leu | |
| ENST00000367057.7:c.2012G>T | ENSP00000356024.3:p.Arg671Leu | |
| ENST00000367058.7:c.1979-223G>T | ENSP00000356025.3:n.1979-223G>T | |
| ENST00000367059.3:c.1979-223G>T | ENSP00000356026.3:n.1979-223G>T | |
| NM_001006658.2:c.2012G>T , LRG_348t1:c.2012G>T | NP_001006659.1:p.Arg671Leu | |
| NM_001877.4:c.1979-223G>T | NP_001868.2:n.1979-223G>T | |
| XM_011509206.1:c.1643G>T | XP_011507508.1:p.Arg548Leu | |
| XM_011509206.3:c.1643G>T | XP_011507508.1:p.Arg548Leu | |
| NM_001006658.3:c.2012G>T MANE Select | NP_001006659.1:p.Arg671Leu | |
| NM_001877.5:c.1979-223G>T | NP_001868.2:n.1979-223G>T |