Revel Score:
ENST00000340855 (MANE Select)
0.940
ENST00000370441
0.940
ENST00000370443
0.940
ENST00000428056
0.940
ENST00000521702
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149504185C>A , CM000685.2:g.149504185C>A | GRCh38 |
| NC_000023.10:g.148585715C>A , CM000685.1:g.148585715C>A | GRCh37 |
| NC_000023.9:g.148393619C>A | NCBI36 |
| NG_011900.3:g.6150G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.212G>T MANE Select | ENSP00000339801.6:p.Ser71Ile | |
| ENST00000651111.1:c.-215-3148G>T | ENSP00000498395.1:n.-215-3148G>T | |
| ENST00000340855.10:c.212G>T | ENSP00000339801.6:p.Ser71Ile | |
| ENST00000370441.8:c.212G>T | ENSP00000359470.4:p.Ser71Ile | |
| ENST00000422081.6:c.-215-3148G>T | ENSP00000477056.1:n.-215-3148G>T | |
| ENST00000427113.2:n.770-1962G>T | ||
| ENST00000428056.6:c.212G>T | ENSP00000390241.2:p.Ser71Ile | |
| ENST00000441880.1:n.114-17087G>T | ||
| ENST00000464251.5:c.35G>T | ENSP00000428980.1:p.Ser12Ile | |
| ENST00000466323.5:c.212G>T | ENSP00000418264.1:p.Ser71Ile | |
| ENST00000521702.1:c.212G>T | ENSP00000429745.1:p.Ser71Ile | |
| ENST00000523759.5:n.533-3148G>T | ||
| NM_000202.6:c.212G>T | NP_000193.1:p.Ser71Ile | |
| NM_001166550.2:c.-15G>T | NP_001160022.1:n.-15G>T | |
| NM_006123.4:c.212G>T | NP_006114.1:p.Ser71Ile | |
| NR_104128.1:n.429G>T | ||
| NM_000202.7:c.212G>T | NP_000193.1:p.Ser71Ile | |
| NM_001166550.3:c.-15G>T | NP_001160022.1:n.-15G>T | |
| NM_000202.8:c.212G>T MANE Select | NP_000193.1:p.Ser71Ile | |
| NM_001166550.4:c.-15G>T | NP_001160022.1:n.-15G>T | |
| NM_006123.5:c.212G>T | NP_006114.1:p.Ser71Ile | |
| NR_104128.2:n.381G>T |