Revel Score:
ENST00000262430 (MANE Select)
0.553
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83907018C>T , CM000678.2:g.83907018C>T | GRCh38 |
| NC_000016.9:g.83940623C>T , CM000678.1:g.83940623C>T | GRCh37 |
| NC_000016.8:g.82498124C>T | NCBI36 |
| NG_009079.1:g.12894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262430.6:c.560C>T MANE Select | ENSP00000262430.4:p.Ser187Leu | |
| ENST00000262430.5:c.560C>T | ENSP00000262430.4:p.Ser187Leu | |
| NM_012213.2:c.560C>T | NP_036345.2:p.Ser187Leu | |
| NM_012213.3:c.560C>T MANE Select | NP_036345.2:p.Ser187Leu |