Revel Score:
ENST00000533357 (MANE Select)
0.694
ENST00000360451
0.694
ENST00000336559
0.694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306427G>C , CM000663.2:g.161306427G>C | GRCh38 |
| NC_000001.10:g.161276217G>C , CM000663.1:g.161276217G>C | GRCh37 |
| NC_000001.9:g.159542841G>C | NCBI36 |
| NG_008055.1:g.8546C>G , LRG_256:g.8546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.405C>G | ENSP00000488104.2:p.Ile135Met | |
| ENST00000533357.5:c.486C>G MANE Select | ENSP00000432943.1:p.Ile162Met | |
| ENST00000672287.2:c.-103C>G | ENSP00000499818.2:n.-103C>G | |
| ENST00000672602.2:c.486C>G | ENSP00000500814.2:p.Ile162Met | |
| ENST00000674861.1:n.549C>G | ||
| ENST00000463290.5:c.486C>G | ENSP00000431538.1:p.Ile162Met | |
| ENST00000491222.5:c.-103C>G | ENSP00000431441.1:n.-103C>G | |
| ENST00000526189.2:c.149C>G | ||
| ENST00000533357.4:c.486C>G | ENSP00000432943.1:p.Ile162Met | |
| NM_000530.6:c.486C>G , LRG_256t1:c.486C>G | NP_000521.2:p.Ile162Met | |
| NM_000530.7:c.486C>G | NP_000521.2:p.Ile162Met | |
| NM_001315491.1:c.486C>G | NP_001302420.1:p.Ile162Met | |
| XM_017001321.2:c.516C>G | XP_016856810.1:p.Ile172Met | |
| NM_000530.8:c.486C>G MANE Select | NP_000521.2:p.Ile162Met | |
| NM_001315491.2:c.486C>G | NP_001302420.1:p.Ile162Met |