Revel Score:
ENST00000343257 (MANE Select)
0.884
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143323375G>T , CM000669.2:g.143323375G>T | GRCh38 |
| NC_000007.13:g.143020468G>T , CM000669.1:g.143020468G>T | GRCh37 |
| NC_000007.12:g.142730590G>T | NCBI36 |
| NG_009815.1:g.12250G>T | |
| NG_009815.2:g.12250G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.763G>T | ENSP00000498052.2:p.Gly255Trp | |
| ENST00000343257.7:c.763G>T MANE Select | ENSP00000339867.2:p.Gly255Trp | |
| ENST00000432192.6:c.465-198G>T | ||
| ENST00000455478.6:c.217G>T | ENSP00000400027.2:p.Gly73Trp | |
| ENST00000650516.1:c.763G>T | ENSP00000498052.1:p.Gly255Trp | |
| ENST00000343257.6:c.763G>T | ENSP00000339867.2:p.Gly255Trp | |
| ENST00000432192.5:c.155-198G>T | ||
| ENST00000455478.5:c.221G>T | ||
| ENST00000495612.1:n.154+1527G>T | ||
| NM_000083.2:c.763G>T | NP_000074.2:p.Gly255Trp | |
| NR_046453.1:n.850G>T | ||
| XM_011515781.1:c.763G>T | XP_011514083.1:p.Gly255Trp | |
| XM_017011739.1:c.403+1527G>T | XP_016867228.1:n.403+1527G>T | |
| XM_017011740.1:c.403+1527G>T | XP_016867229.1:n.403+1527G>T | |
| NM_000083.3:c.763G>T MANE Select | NP_000074.3:p.Gly255Trp | |
| NR_046453.2:n.865G>T |