Revel Score:
ENST00000302850 (MANE Select)
0.915
ENST00000341500
0.915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7120739C>T , CM000681.2:g.7120739C>T | GRCh38 |
| NC_000019.9:g.7120750C>T , CM000681.1:g.7120750C>T | GRCh37 |
| NC_000019.8:g.7071750C>T | NCBI36 |
| NG_008852.2:g.178262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3540G>A MANE Select | ENSP00000303830.4:p.Met1180Ile | |
| ENST00000302850.9:c.3540G>A | ENSP00000303830.4:p.Met1180Ile | |
| ENST00000341500.9:c.3504G>A | ENSP00000342838.4:p.Met1168Ile | |
| ENST00000601099.1:n.451G>A | ||
| NM_000208.2:c.3540G>A | NP_000199.2:p.Met1180Ile | |
| NM_000208.3:c.3540G>A | NP_000199.2:p.Met1180Ile | |
| NM_001079817.1:c.3504G>A | NP_001073285.1:p.Met1168Ile | |
| NM_001079817.2:c.3504G>A | NP_001073285.1:p.Met1168Ile | |
| XM_011527988.1:c.3615G>A | XP_011526290.1:p.Met1205Ile | |
| XM_011527989.1:c.3579G>A | XP_011526291.1:p.Met1193Ile | |
| XM_011527988.2:c.3537G>A | XP_011526290.2:p.Met1179Ile | |
| XM_011527989.3:c.3501G>A | XP_011526291.2:p.Met1167Ile | |
| NM_000208.4:c.3540G>A MANE Select | NP_000199.2:p.Met1180Ile | |
| NM_001079817.3:c.3504G>A | NP_001073285.1:p.Met1168Ile |