Revel Score:
ENST00000319474
0.102
ENST00000377443 (MANE Select)
0.102
ENST00000377436
0.102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8949385A>T , CM000663.2:g.8949385A>T | GRCh38 |
| NC_000001.10:g.9009444A>T , CM000663.1:g.9009444A>T | GRCh37 |
| NC_000001.9:g.8932031A>T | NCBI36 |
| NG_033975.1:g.8552A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.202A>T MANE Select | ENSP00000366662.2:p.Met68Leu | |
| ENST00000377436.6:c.202A>T | ENSP00000366654.3:p.Met68Leu | |
| ENST00000377442.3:c.79+3420A>T | ENSP00000366661.2:n.79+3420A>T | |
| ENST00000377443.6:c.202A>T | ENSP00000366662.2:p.Met68Leu | |
| ENST00000476083.1:n.98+3420A>T | ||
| ENST00000480186.7:c.202A>T | ENSP00000435280.1:p.Met68Leu | |
| ENST00000549778.5:c.168+34A>T | ENSP00000447108.1:n.168+34A>T | |
| NM_001215.3:c.202A>T | NP_001206.2:p.Met68Leu | |
| NM_001270500.1:c.202A>T | NP_001257429.1:p.Met68Leu | |
| NM_001270501.1:c.79+3420A>T | NP_001257430.1:n.79+3420A>T | |
| NM_001270502.1:c.24+3420A>T | NP_001257431.1:n.24+3420A>T | |
| XM_011542083.1:c.214A>T | XP_011540385.1:p.Met72Leu | |
| XM_011542084.1:c.214A>T | XP_011540386.1:p.Met72Leu | |
| XM_011542083.3:c.214A>T | XP_011540385.1:p.Met72Leu | |
| XM_011542084.3:c.214A>T | XP_011540386.1:p.Met72Leu | |
| NM_001215.4:c.202A>T MANE Select | NP_001206.2:p.Met68Leu | |
| NM_001270500.2:c.202A>T | NP_001257429.1:p.Met68Leu | |
| NM_001270501.2:c.79+3420A>T | NP_001257430.1:n.79+3420A>T | |
| NM_001270502.2:c.24+3420A>T | NP_001257431.1:n.24+3420A>T |