Revel Score:
ENST00000471660
0.510
ENST00000263780 (MANE Select)
0.510
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87245898C>T , CM000665.2:g.87245898C>T | GRCh38 |
| NC_000003.11:g.87295048C>T , CM000665.1:g.87295048C>T | GRCh37 |
| NC_000003.10:g.87377738C>T | NCBI36 |
| NG_007885.1:g.23636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.311C>T MANE Select | ENSP00000263780.4:p.Thr104Ile | |
| ENST00000472024.3:c.359C>T | ENSP00000480032.2:p.Thr120Ile | |
| ENST00000676705.1:c.359C>T | ENSP00000504098.1:p.Thr120Ile | |
| ENST00000676947.1:n.464C>T | ||
| ENST00000677929.1:n.549C>T | ||
| ENST00000678818.1:n.1063-517C>T | ||
| ENST00000678859.1:n.634C>T | ||
| ENST00000263780.8:c.311C>T | ENSP00000263780.4:p.Thr104Ile | |
| ENST00000471660.5:c.188C>T | ENSP00000419998.1:p.Thr63Ile | |
| ENST00000472024.2:c.359C>T | ENSP00000480032.1:p.Thr120Ile | |
| ENST00000494980.5:c.231+80C>T | ENSP00000418920.1:n.231+80C>T | |
| NM_001244644.1:c.188C>T | NP_001231573.1:p.Thr63Ile | |
| NM_014043.3:c.311C>T | NP_054762.2:p.Thr104Ile | |
| XM_011533576.1:c.359C>T | XP_011531878.1:p.Thr120Ile | |
| XM_011533576.2:c.359C>T | XP_011531878.1:p.Thr120Ile | |
| NM_014043.4:c.311C>T MANE Select | NP_054762.2:p.Thr104Ile | |
| NM_001244644.2:c.188C>T | NP_001231573.1:p.Thr63Ile |