Revel Score:
ENST00000338639 (MANE Select)
0.567
ENST00000493678
0.567
ENST00000377491
0.567
ENST00000377488
0.567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7962863G>A , CM000663.2:g.7962863G>A | GRCh38 |
| NC_000001.10:g.8022923G>A , CM000663.1:g.8022923G>A | GRCh37 |
| NC_000001.9:g.7945510G>A | NCBI36 |
| NG_008271.1:g.6210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.78G>A MANE Select | ENSP00000340278.5:p.Met26Ile | |
| ENST00000338639.9:c.78G>A | ENSP00000340278.5:p.Met26Ile | |
| ENST00000377488.5:c.78G>A | ENSP00000366708.1:p.Met26Ile | |
| ENST00000377491.5:c.78G>A | ENSP00000366711.1:p.Met26Ile | |
| ENST00000377493.9:c.78G>A | ENSP00000466242.1:p.Met26Ile | |
| ENST00000460192.5:n.174G>A | ||
| ENST00000465354.5:n.147G>A | ||
| ENST00000493373.5:c.78G>A | ENSP00000465404.1:p.Met26Ile | |
| ENST00000493678.5:c.78G>A | ENSP00000418770.1:p.Met26Ile | |
| ENST00000497113.1:n.97G>A | ||
| NM_001123377.1:c.78G>A | NP_001116849.1:p.Met26Ile | |
| NM_007262.4:c.78G>A | NP_009193.2:p.Met26Ile | |
| XM_005263424.2:c.78G>A | XP_005263481.1:p.Met26Ile | |
| XM_005263424.3:c.78G>A | XP_005263481.1:p.Met26Ile | |
| NM_007262.5:c.78G>A MANE Select | NP_009193.2:p.Met26Ile | |
| NM_001123377.2:c.78G>A | NP_001116849.1:p.Met26Ile |