Revel Score:
ENST00000388922 (MANE Select)
0.914
ENST00000267008
0.914
ENST00000550683
0.914
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51914046C>T , CM000674.2:g.51914046C>T | GRCh38 |
| NC_000012.11:g.52307830C>T , CM000674.1:g.52307830C>T | GRCh37 |
| NC_000012.10:g.50594097C>T | NCBI36 |
| NG_009549.1:g.11629C>T , LRG_543:g.11629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.356-393C>T | ENSP00000446724.2:n.356-393C>T | |
| ENST00000551576.6:c.598C>T | ENSP00000455848.2:p.Arg200Trp | |
| ENST00000552678.2:c.598C>T | ENSP00000457394.2:p.Arg200Trp | |
| ENST00000388922.9:c.598C>T MANE Select | ENSP00000373574.4:p.Arg200Trp | |
| ENST00000388922.8:c.598C>T | ENSP00000373574.4:p.Arg200Trp | |
| ENST00000419526.6:c.104-393C>T | ENSP00000392492.2:n.104-393C>T | |
| ENST00000547400.5:c.356-393C>T | ENSP00000446724.1:n.356-393C>T | |
| ENST00000550683.5:c.640C>T | ENSP00000447884.1:p.Arg214Trp | |
| NM_000020.2:c.598C>T , LRG_543t1:c.598C>T | NP_000011.2:p.Arg200Trp | |
| NM_001077401.1:c.598C>T | NP_001070869.1:p.Arg200Trp | |
| XM_005269235.2:c.598C>T | XP_005269292.1:p.Arg200Trp | |
| XM_011539008.1:c.356-393C>T | XP_011537310.1:n.356-393C>T | |
| XM_024449279.1:c.-165+276C>T | XP_024305047.1:n.-165+276C>T | |
| NM_000020.3:c.598C>T MANE Select | NP_000011.2:p.Arg200Trp | |
| NM_001077401.2:c.598C>T | NP_001070869.1:p.Arg200Trp |