Revel Score:
ENST00000356136 (MANE Select)
0.289
ENST00000528420
0.289
ENST00000528264
0.289
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75961485C>T , CM000673.2:g.75961485C>T | GRCh38 |
| NC_000011.9:g.75672529C>T , CM000673.1:g.75672529C>T | GRCh37 |
| NC_000011.8:g.75350177C>T | NCBI36 |
| NG_046930.1:g.151319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356136.8:c.635C>T MANE Select | ENSP00000348455.3:p.Thr212Ile | |
| ENST00000356136.7:c.635C>T | ENSP00000348455.3:p.Thr212Ile | |
| ENST00000528264.1:c.332C>T | ENSP00000433613.1:p.Thr111Ile | |
| ENST00000528420.5:c.332C>T | ENSP00000436039.1:p.Thr111Ile | |
| ENST00000530501.1:n.23C>T | ||
| ENST00000533454.5:c.-658C>T | ENSP00000431256.1:n.-658C>T | |
| NM_003369.3:c.635C>T | NP_003360.2:p.Thr212Ile | |
| XM_006718674.2:c.635C>T | XP_006718737.1:p.Thr212Ile | |
| XM_006718675.2:c.635C>T | XP_006718738.1:p.Thr212Ile | |
| XM_011545226.1:c.635C>T | XP_011543528.1:p.Thr212Ile | |
| XM_011545227.1:c.635C>T | XP_011543529.1:p.Thr212Ile | |
| XM_011545228.1:c.635C>T | XP_011543530.1:p.Thr212Ile | |
| XR_950027.1:n.876C>T | ||
| XM_011545226.3:c.635C>T | XP_011543528.1:p.Thr212Ile | |
| XM_011545227.3:c.635C>T | XP_011543529.1:p.Thr212Ile | |
| XM_011545228.3:c.635C>T | XP_011543530.1:p.Thr212Ile | |
| XM_017018226.2:c.635C>T | XP_016873715.1:p.Thr212Ile | |
| XM_017018227.2:c.-657C>T | XP_016873716.1:n.-657C>T | |
| XR_001747949.2:n.854C>T | ||
| XR_001747950.2:n.854C>T | ||
| XR_001747951.2:n.854C>T | ||
| NM_003369.4:c.635C>T MANE Select | NP_003360.2:p.Thr212Ile | |
| NM_001386671.1:c.635C>T | NP_001373600.1:p.Thr212Ile | |
| NM_001386672.1:c.473C>T | NP_001373601.1:p.Thr158Ile | |
| NM_001386673.1:c.635C>T | NP_001373602.1:p.Thr212Ile | |
| NM_001386674.1:c.635C>T | NP_001373603.1:p.Thr212Ile | |
| NR_170160.1:n.833C>T | ||
| NR_170161.1:n.833C>T |