Revel Score:
ENST00000252486 (MANE Select)
0.485
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000374 (SAS)
Exomes Max Group AF
0.00000395 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909101C>T , CM000681.2:g.44909101C>T | GRCh38 |
| NC_000019.9:g.45412358C>T , CM000681.1:g.45412358C>T | GRCh37 |
| NC_000019.8:g.50104198C>T | NCBI36 |
| NG_007084.2:g.8320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.805C>T MANE Select | ENSP00000252486.3:p.Arg269Cys | |
| ENST00000252486.8:c.805C>T | ENSP00000252486.3:p.Arg269Cys | |
| NM_000041.3:c.805C>T | NP_000032.1:p.Arg269Cys | |
| NM_001302688.1:c.883C>T | NP_001289617.1:p.Arg295Cys | |
| NM_001302689.1:c.805C>T | NP_001289618.1:p.Arg269Cys | |
| NM_001302690.1:c.805C>T | NP_001289619.1:p.Arg269Cys | |
| NM_001302691.1:c.805C>T | NP_001289620.1:p.Arg269Cys | |
| NM_000041.4:c.805C>T MANE Select | NP_000032.1:p.Arg269Cys | |
| NM_001302688.2:c.883C>T | NP_001289617.1:p.Arg295Cys | |
| NM_001302689.2:c.805C>T | NP_001289618.1:p.Arg269Cys | |
| NM_001302691.2:c.805C>T | NP_001289620.1:p.Arg269Cys | |
| NM_001302690.2:c.805C>T | NP_001289619.1:p.Arg269Cys |