Revel Score:
ENST00000449596
0.947
ENST00000543200
0.947
ENST00000258385 (MANE Select)
0.947
ENST00000536614
0.947
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004019 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232526603C>T , CM000664.2:g.232526603C>T | GRCh38 |
| NC_000002.11:g.233391313C>T , CM000664.1:g.233391313C>T | GRCh37 |
| NC_000002.10:g.233099557C>T | NCBI36 |
| NG_008028.1:g.5392C>T | |
| NG_031969.1:g.11141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.127C>T MANE Select | ENSP00000258385.3:p.Arg43Trp | |
| ENST00000258385.7:c.127C>T | ENSP00000258385.3:p.Arg43Trp | |
| ENST00000412233.5:c.127C>T | ENSP00000398143.1:p.Arg43Trp | |
| ENST00000441621.6:c.127C>T | ENSP00000408819.2:p.Arg43Trp | |
| ENST00000446616.1:c.127C>T | ENSP00000410801.1:p.Arg43Trp | |
| ENST00000449596.5:c.127C>T | ENSP00000404950.1:p.Arg43Trp | |
| ENST00000543200.5:c.127C>T | ENSP00000438380.1:p.Arg43Trp | |
| NM_000751.2:c.127C>T | NP_000742.1:p.Arg43Trp | |
| NM_001256657.1:c.127C>T | NP_001243586.1:p.Arg43Trp | |
| NM_001311195.1:c.-145C>T | NP_001298124.1:n.-145C>T | |
| NM_001311196.1:c.-145C>T | NP_001298125.1:n.-145C>T | |
| NR_046333.1:c.-4294967113C>T | ||
| NR_046334.1:c.-4294967113C>T | ||
| XM_011510524.1:c.-145C>T | XP_011508826.1:n.-145C>T | |
| XM_011510524.2:c.-145C>T | XP_011508826.1:n.-145C>T | |
| NM_000751.3:c.127C>T MANE Select | NP_000742.1:p.Arg43Trp | |
| NM_001311195.2:c.-145C>T | NP_001298124.1:n.-145C>T | |
| NM_001311196.2:c.-145C>T | NP_001298125.1:n.-145C>T | |
| NM_001256657.2:c.127C>T | NP_001243586.1:p.Arg43Trp |