Revel Score:
ENST00000305046 (MANE Select)
0.240
ENST00000394887
0.240
ENST00000412614
0.240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318167G>C , CM000666.2:g.99318167G>C | GRCh38 |
| NC_000004.11:g.100239324G>C , CM000666.1:g.100239324G>C | GRCh37 |
| NC_000004.10:g.100458347G>C | NCBI36 |
| NG_011435.1:g.8249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.138C>G MANE Select | ENSP00000306606.8:p.Ile46Met | |
| ENST00000639454.1:c.138C>G | ENSP00000491622.1:p.Ile46Met | |
| ENST00000305046.12:c.138C>G | ENSP00000306606.8:p.Ile46Met | |
| ENST00000504498.1:n.192C>G | ||
| ENST00000506651.5:c.18C>G | ENSP00000425998.2:p.Ile6Met | |
| ENST00000515694.4:n.2233C>G | ||
| ENST00000625860.2:c.18C>G | ENSP00000486614.1:p.Ile6Met | |
| ENST00000632775.1:n.701C>G | ||
| NM_000668.5:c.138C>G | NP_000659.2:p.Ile46Met | |
| NM_001286650.1:c.18C>G | NP_001273579.1:p.Ile6Met | |
| NM_000668.6:c.138C>G MANE Select | NP_000659.2:p.Ile46Met | |
| NM_001286650.2:c.18C>G | NP_001273579.1:p.Ile6Met |