Revel Score:
ENST00000540732
0.950
ENST00000269980 (MANE Select)
0.950
ENST00000542943
0.950
ENST00000457836
0.950
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000037 (SAS)
Exomes Max Group AF
0.00000391 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41423038C>T , CM000681.2:g.41423038C>T | GRCh38 |
| NC_000019.9:g.41928943C>T , CM000681.1:g.41928943C>T | GRCh37 |
| NC_000019.8:g.46620783C>T | NCBI36 |
| NG_013004.1:g.30250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1036C>T MANE Select | ENSP00000269980.2:p.Arg346Cys | |
| ENST00000269980.6:c.1036C>T | ENSP00000269980.2:p.Arg346Cys | |
| ENST00000457836.6:c.1045C>T | ENSP00000416000.2:p.Arg349Cys | |
| ENST00000540732.3:c.1138C>T | ENSP00000443246.1:p.Arg380Cys | |
| ENST00000542943.5:c.949C>T | ENSP00000440345.1:p.Arg317Cys | |
| ENST00000595085.5:c.922+341C>T | ENSP00000471150.2:n.922+341C>T | |
| NM_000709.3:c.1036C>T | NP_000700.1:p.Arg346Cys | |
| NM_001164783.1:c.1033C>T | NP_001158255.1:p.Arg345Cys | |
| NM_000709.4:c.1036C>T MANE Select | NP_000700.1:p.Arg346Cys | |
| NM_001164783.2:c.1033C>T | NP_001158255.1:p.Arg345Cys |