Revel Score:
ENST00000379375 (MANE Select)
0.133
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12296024C>T , CM000668.2:g.12296024C>T | GRCh38 |
| NC_000006.11:g.12296257C>T , CM000668.1:g.12296257C>T | GRCh37 |
| NC_000006.10:g.12404243C>T | NCBI36 |
| NG_016196.1:g.10729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.596C>T MANE Select | ENSP00000368683.5:p.Pro199Leu | |
| ENST00000379375.5:c.596C>T | ENSP00000368683.5:p.Pro199Leu | |
| NM_001168319.1:c.593C>T | NP_001161791.1:p.Pro198Leu | |
| NM_001955.4:c.596C>T | NP_001946.3:p.Pro199Leu | |
| XM_011514330.1:c.596C>T | XP_011512632.1:p.Pro199Leu | |
| XM_011514331.1:c.596C>T | XP_011512633.1:p.Pro199Leu | |
| XM_011514332.1:c.593C>T | XP_011512634.1:p.Pro198Leu | |
| XM_011514330.2:c.596C>T | XP_011512632.1:p.Pro199Leu | |
| XM_011514331.3:c.596C>T | XP_011512633.1:p.Pro199Leu | |
| XM_011514332.2:c.593C>T | XP_011512634.1:p.Pro198Leu | |
| XM_017010331.1:c.596C>T | XP_016865820.1:p.Pro199Leu | |
| NM_001955.5:c.596C>T MANE Select | NP_001946.3:p.Pro199Leu | |
| NM_001168319.2:c.593C>T | NP_001161791.1:p.Pro198Leu |