Revel Score:
ENST00000343257 (MANE Select)
0.968
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001062 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341995C>T , CM000669.2:g.143341995C>T | GRCh38 |
| NC_000007.13:g.143039088C>T , CM000669.1:g.143039088C>T | GRCh37 |
| NC_000007.12:g.142749210C>T | NCBI36 |
| NG_009815.1:g.30870C>T | |
| NG_009815.2:g.30870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1649C>T | ENSP00000498052.2:p.Thr550Met | |
| ENST00000343257.7:c.1649C>T MANE Select | ENSP00000339867.2:p.Thr550Met | |
| ENST00000432192.6:c.1473C>T | ||
| ENST00000343257.6:c.1649C>T | ENSP00000339867.2:p.Thr550Met | |
| NM_000083.2:c.1649C>T | NP_000074.2:p.Thr550Met | |
| NR_046453.1:n.1589C>T | ||
| XM_011515781.1:c.1673C>T | XP_011514083.1:p.Thr558Met | |
| XM_011515782.1:c.395C>T | XP_011514084.1:p.Thr132Met | |
| XM_011515782.2:c.395C>T | XP_011514084.1:p.Thr132Met | |
| XM_017011739.1:c.1223C>T | XP_016867228.1:p.Thr408Met | |
| XM_017011740.1:c.1199C>T | XP_016867229.1:p.Thr400Met | |
| NM_000083.3:c.1649C>T MANE Select | NP_000074.3:p.Thr550Met | |
| NR_046453.2:n.1604C>T |