Revel Score:
ENST00000313468 (MANE Select)
0.550
ENST00000453471
0.550
ENST00000526339
0.550
ENST00000525628
0.550
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00329094 (NFE)
Genomes Max Group AF
0.00286888 (NFE)
Exomes Max Group AF
0.00329814 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68032155C>T , CM000673.2:g.68032155C>T | GRCh38 |
| NC_000011.9:g.67799622C>T , CM000673.1:g.67799622C>T | GRCh37 |
| NC_000011.8:g.67556198C>T | NCBI36 |
| NG_017040.1:g.6539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.4C>T MANE Select | ENSP00000315774.5:p.Arg2Cys | |
| ENST00000313468.9:c.4C>T | ENSP00000315774.5:p.Arg2Cys | |
| ENST00000432321.6:n.121C>T | ||
| ENST00000453471.6:c.4C>T | ENSP00000403972.2:p.Arg2Cys | |
| ENST00000525419.5:c.56-768C>T | ENSP00000433521.1:n.56-768C>T | |
| ENST00000525628.1:c.4C>T | ENSP00000432968.1:p.Arg2Cys | |
| ENST00000526339.5:c.4C>T | ENSP00000436287.1:p.Arg2Cys | |
| ENST00000526446.5:c.4C>T | ENSP00000433645.1:p.Arg2Cys | |
| ENST00000528492.1:c.-67+1422C>T | ENSP00000432848.1:n.-67+1422C>T | |
| ENST00000531228.1:c.59C>T | ENSP00000433054.1:p.Ala20Val | |
| ENST00000531796.1:n.85C>T | ||
| ENST00000532399.1:n.25C>T | ||
| NM_002496.3:c.4C>T | NP_002487.1:p.Arg2Cys | |
| XM_005274013.1:c.4C>T | XP_005274070.1:p.Arg2Cys | |
| XM_005274014.1:c.4C>T | XP_005274071.1:p.Arg2Cys | |
| XM_005274015.1:c.-304C>T | XP_005274072.1:n.-304C>T | |
| XM_011545053.1:c.4C>T | XP_011543355.1:p.Arg2Cys | |
| NM_002496.4:c.4C>T MANE Select | NP_002487.1:p.Arg2Cys |