Revel Score:
ENST00000251595 (MANE Select)
0.836
ENST00000534957
0.836
ENST00000397806
0.836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173151A>T , CM000678.2:g.173151A>T | GRCh38 |
| NC_000016.9:g.223150A>T , CM000678.1:g.223150A>T | GRCh37 |
| NC_000016.8:g.163150A>T | NCBI36 |
| NG_000006.1:g.34014A>T | |
| NG_059186.1:g.1501A>T | |
| NG_059271.1:g.5305A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.122A>T MANE Select | ENSP00000251595.6:p.Lys41Met | |
| ENST00000251595.10:c.122A>T | ENSP00000251595.6:p.Lys41Met | |
| ENST00000397806.1:c.26A>T | ENSP00000380908.1:p.Lys9Met | |
| ENST00000482565.1:n.258A>T | ||
| ENST00000484216.1:n.91A>T | ||
| NM_000517.4:c.122A>T | NP_000508.1:p.Lys41Met | |
| NM_000517.6:c.122A>T MANE Select | NP_000508.1:p.Lys41Met |