Revel Score:
ENST00000218099 (MANE Select)
0.580
ENST00000394090
0.580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561566G>T , CM000685.2:g.139561566G>T | GRCh38 |
| NC_000023.10:g.138643725G>T , CM000685.1:g.138643725G>T | GRCh37 |
| NC_000023.9:g.138471391G>T | NCBI36 |
| NG_007994.1:g.35831G>T , LRG_556:g.35831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.881G>T MANE Select | ENSP00000218099.2:p.Arg294Leu | |
| ENST00000643157.1:n.1548G>T | ||
| ENST00000218099.6:c.881G>T | ENSP00000218099.2:p.Arg294Leu | |
| ENST00000394090.2:c.767G>T | ENSP00000377650.2:p.Arg256Leu | |
| NM_000133.3:c.881G>T , LRG_556t1:c.881G>T | NP_000124.1:p.Arg294Leu | |
| NM_001313913.1:c.767G>T | NP_001300842.1:p.Arg256Leu | |
| XM_005262397.3:c.752G>T | XP_005262454.1:p.Arg251Leu | |
| XM_005262397.4:c.752G>T | XP_005262454.1:p.Arg251Leu | |
| NM_000133.4:c.881G>T MANE Select | NP_000124.1:p.Arg294Leu | |
| NM_001313913.2:c.767G>T | NP_001300842.1:p.Arg256Leu |