Revel Score:
ENST00000375559 (MANE Select)
0.716
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149146C>T , CM000675.2:g.113149146C>T | GRCh38 |
| NC_000013.10:g.113803460C>T , CM000675.1:g.113803460C>T | GRCh37 |
| NC_000013.9:g.112851461C>T | NCBI36 |
| NG_009258.1:g.31348C>T , LRG_548:g.31348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1096C>T MANE Select | ENSP00000364709.3:p.Arg366Cys | |
| ENST00000375551.7:c.*87C>T | ENSP00000364701.3:n.*87C>T | |
| ENST00000375559.7:c.1096C>T | ENSP00000364709.3:p.Arg366Cys | |
| ENST00000409306.5:c.*87C>T | ENSP00000387092.1:n.*87C>T | |
| NM_000504.3:c.1096C>T , LRG_548t1:c.1096C>T | NP_000495.1:p.Arg366Cys | |
| NM_001312674.1:c.964C>T | NP_001299603.1:p.Arg322Cys | |
| NM_001312675.1:c.*87C>T | NP_001299604.1:n.*87C>T | |
| NM_000504.4:c.1096C>T MANE Select | NP_000495.1:p.Arg366Cys | |
| NM_001312674.2:c.964C>T | NP_001299603.1:p.Arg322Cys | |
| NM_001312675.2:c.*87C>T | NP_001299604.1:n.*87C>T |