Revel Score:
ENST00000302850 (MANE Select)
0.875
ENST00000341500
0.875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7122662C>T , CM000681.2:g.7122662C>T | GRCh38 |
| NC_000019.9:g.7122673C>T , CM000681.1:g.7122673C>T | GRCh37 |
| NC_000019.8:g.7073673C>T | NCBI36 |
| NG_008852.2:g.176339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3481G>A MANE Select | ENSP00000303830.4:p.Ala1161Thr | |
| ENST00000302850.9:c.3481G>A | ENSP00000303830.4:p.Ala1161Thr | |
| ENST00000341500.9:c.3445G>A | ENSP00000342838.4:p.Ala1149Thr | |
| ENST00000593970.1:n.327G>A | ||
| ENST00000601099.1:n.392G>A | ||
| NM_000208.2:c.3481G>A | NP_000199.2:p.Ala1161Thr | |
| NM_000208.3:c.3481G>A | NP_000199.2:p.Ala1161Thr | |
| NM_001079817.1:c.3445G>A | NP_001073285.1:p.Ala1149Thr | |
| NM_001079817.2:c.3445G>A | NP_001073285.1:p.Ala1149Thr | |
| XM_011527988.1:c.3556G>A | XP_011526290.1:p.Ala1186Thr | |
| XM_011527989.1:c.3520G>A | XP_011526291.1:p.Ala1174Thr | |
| XM_011527988.2:c.3478G>A | XP_011526290.2:p.Ala1160Thr | |
| XM_011527989.3:c.3442G>A | XP_011526291.2:p.Ala1148Thr | |
| NM_000208.4:c.3481G>A MANE Select | NP_000199.2:p.Ala1161Thr | |
| NM_001079817.3:c.3445G>A | NP_001073285.1:p.Ala1149Thr |