Revel Score:
ENST00000370192 (MANE Select)
0.952
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020849 (SAS)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00022077 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691776G>A , CM000663.2:g.97691776G>A | GRCh38 |
| NC_000001.10:g.98157332G>A , CM000663.1:g.98157332G>A | GRCh37 |
| NC_000001.9:g.97929920G>A | NCBI36 |
| NG_008807.2:g.234284C>T , LRG_722:g.234284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.703C>T MANE Select | ENSP00000359211.3:p.Arg235Trp | |
| ENST00000370192.7:c.703C>T | ENSP00000359211.3:p.Arg235Trp | |
| ENST00000474241.1:n.467C>T | ||
| NM_000110.3:c.703C>T , LRG_722t1:c.703C>T | NP_000101.2:p.Arg235Trp | |
| XM_005270562.3:c.703C>T | XP_005270619.2:p.Arg235Trp | |
| XM_006710397.2:c.703C>T | XP_006710460.1:p.Arg235Trp | |
| XM_006710397.3:c.703C>T | XP_006710460.1:p.Arg235Trp | |
| XM_017000507.1:c.592C>T | XP_016855996.1:p.Arg198Trp | |
| XM_017000508.2:c.208C>T | XP_016855997.1:p.Arg70Trp | |
| XM_017000509.2:c.208C>T | XP_016855998.1:p.Arg70Trp | |
| XM_017000510.1:c.208C>T | XP_016855999.1:p.Arg70Trp | |
| NM_000110.4:c.703C>T MANE Select | NP_000101.2:p.Arg235Trp |