Revel Score:
ENST00000326431
0.809
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46709188C>T , CM000665.2:g.46709188C>T | GRCh38 |
| NC_000003.11:g.46750678C>T , CM000665.1:g.46750678C>T | GRCh37 |
| NC_000003.10:g.46725682C>T | NCBI36 |
| NG_011628.1:g.12856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.274C>T MANE Select | ENSP00000494576.2:p.Arg92Trp | |
| ENST00000644830.1:c.115C>T | ENSP00000495111.1:p.Arg39Trp | |
| ENST00000651652.1:c.172C>T | ENSP00000498953.1:p.Arg58Trp | |
| ENST00000326431.3:c.274C>T | ENSP00000324775.3:p.Arg92Trp | |
| NM_147196.2:c.274C>T | NP_671729.2:p.Arg92Trp | |
| XM_006713097.2:c.115C>T | XP_006713160.1:p.Arg39Trp | |
| XM_011533574.1:c.115C>T | XP_011531876.1:p.Arg39Trp | |
| XM_006713097.4:c.115C>T | XP_006713160.1:p.Arg39Trp | |
| XM_024453446.1:c.115C>T | XP_024309214.1:p.Arg39Trp | |
| NM_001370524.1:c.115C>T | NP_001357453.1:p.Arg39Trp | |
| NM_001370525.1:c.115C>T | NP_001357454.1:p.Arg39Trp | |
| NM_147196.3:c.274C>T MANE Select | NP_671729.2:p.Arg92Trp |