Revel Score:
ENST00000303115 (MANE Select)
0.037
ENST00000505875
0.037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35875988A>T , CM000667.2:g.35875988A>T | GRCh38 |
| NC_000005.9:g.35876090A>T , CM000667.1:g.35876090A>T | GRCh37 |
| NC_000005.8:g.35911847A>T | NCBI36 |
| NG_009567.1:g.24100A>T , LRG_74:g.24100A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.882A>T MANE Select | ENSP00000306157.3:p.Leu294Phe | |
| ENST00000303115.7:c.882A>T | ENSP00000306157.3:p.Leu294Phe | |
| ENST00000505093.1:c.197A>T | ENSP00000426069.1:p.Ter66Leu | |
| ENST00000505875.1:n.180A>T | ||
| ENST00000514217.5:c.*76A>T | ENSP00000427688.1:n.*76A>T | |
| NM_002185.3:c.882A>T | NP_002176.2:p.Leu294Phe | |
| NR_120485.1:n.722A>T | ||
| XM_005248299.2:c.788A>T | XP_005248356.1:p.Ter263Leu | |
| NM_002185.4:c.882A>T | NP_002176.2:p.Leu294Phe | |
| NR_120485.2:n.748A>T | ||
| XM_005248299.4:c.788A>T | XP_005248356.1:p.Ter263Leu | |
| NM_002185.5:c.882A>T MANE Select | NP_002176.2:p.Leu294Phe | |
| NR_120485.3:n.706A>T |