Revel Score:
ENST00000450095
0.688
ENST00000378842 (MANE Select)
0.688
ENST00000556278
0.688
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001803 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648436C>T , CM000671.2:g.34648436C>T | GRCh38 |
| NC_000009.11:g.34648433C>T , CM000671.1:g.34648433C>T | GRCh37 |
| NC_000009.10:g.34638433C>T | NCBI36 |
| NG_009029.1:g.6799C>T | |
| NG_028966.1:g.1252C>T | |
| NG_009029.2:g.6848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*255C>T | ENSP00000509954.1:n.*255C>T | |
| ENST00000378842.8:c.667C>T MANE Select | ENSP00000368119.4:p.Arg223Cys | |
| ENST00000378842.7:c.667C>T | ENSP00000368119.3:p.Arg223Cys | |
| ENST00000450095.6:c.340C>T | ENSP00000401956.2:p.Arg114Cys | |
| ENST00000472111.5:n.923C>T | ||
| ENST00000473506.6:c.*255C>T | ENSP00000432839.2:n.*255C>T | |
| ENST00000473529.5:n.826C>T | ||
| ENST00000487381.5:n.1052C>T | ||
| ENST00000489643.6:n.442C>T | ||
| ENST00000554085.5:c.*411C>T | ENSP00000450419.1:n.*411C>T | |
| ENST00000554550.5:c.*287C>T | ENSP00000451435.1:n.*287C>T | |
| ENST00000554638.5:n.1139C>T | ||
| ENST00000555020.5:n.823C>T | ||
| ENST00000555086.5:n.671C>T | ||
| ENST00000555214.5:n.488C>T | ||
| ENST00000555754.1:n.12C>T | ||
| ENST00000556244.1:c.654C>T | ||
| ENST00000556278.1:c.412C>T | ENSP00000451792.1:p.Arg138Cys | |
| ENST00000556494.5:n.788C>T | ||
| ENST00000557706.5:n.1229C>T | ||
| NM_000155.3:c.667C>T | NP_000146.2:p.Arg223Cys | |
| NM_001258332.1:c.340C>T | NP_001245261.1:p.Arg114Cys | |
| NM_000155.4:c.667C>T MANE Select | NP_000146.2:p.Arg223Cys | |
| NM_001258332.2:c.340C>T | NP_001245261.1:p.Arg114Cys |