Revel Score:
ENST00000315758 (MANE Select)
0.832
ENST00000443006
0.832
ENST00000432020
0.832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76063579C>T , CM000669.2:g.76063579C>T | GRCh38 |
| NC_000007.13:g.75692897C>T , CM000669.1:g.75692897C>T | GRCh37 |
| NC_000007.12:g.75530833C>T | NCBI36 |
| NG_052976.1:g.20561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315758.10:c.620C>T MANE Select | ENSP00000327070.5:p.Pro207Leu | |
| ENST00000315758.9:c.620C>T | ENSP00000327070.5:p.Pro207Leu | |
| ENST00000424167.2:n.196C>T | ||
| ENST00000432020.2:c.494C>T | ENSP00000408649.2:p.Pro165Leu | |
| ENST00000443006.5:c.299C>T | ENSP00000416929.1:p.Pro100Leu | |
| NM_001282403.1:c.494C>T | NP_001269332.1:p.Pro165Leu | |
| NM_001282404.1:c.299C>T | NP_001269333.1:p.Pro100Leu | |
| NM_005918.3:c.620C>T | NP_005909.2:p.Pro207Leu | |
| NM_005918.4:c.620C>T MANE Select | NP_005909.2:p.Pro207Leu | |
| NM_001282403.2:c.494C>T | NP_001269332.1:p.Pro165Leu | |
| NM_001282404.2:c.299C>T | NP_001269333.1:p.Pro100Leu |