Revel Score:
ENST00000225927 (MANE Select)
0.924
ENST00000377405
0.924
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543933C>T , CM000679.2:g.42543933C>T | GRCh38 |
| NC_000017.10:g.40695951C>T , CM000679.1:g.40695951C>T | GRCh37 |
| NC_000017.9:g.37949477C>T | NCBI36 |
| NG_011552.1:g.13001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1927C>T MANE Select | ENSP00000225927.1:p.Arg643Cys | |
| ENST00000225927.6:c.1927C>T | ENSP00000225927.1:p.Arg643Cys | |
| ENST00000591587.1:c.1265C>T | ENSP00000467836.1:n.1265C>T | |
| NM_000263.3:c.1927C>T | NP_000254.2:p.Arg643Cys | |
| XM_006721920.2:c.1096C>T | XP_006721983.1:p.Arg366Cys | |
| XM_011524840.1:c.928C>T | XP_011523142.1:p.Arg310Cys | |
| XM_017024687.1:c.1096C>T | XP_016880176.1:p.Arg366Cys | |
| XM_024450771.1:c.1984C>T | XP_024306539.1:p.Arg662Cys | |
| XM_024450772.1:c.928C>T | XP_024306540.1:p.Arg310Cys | |
| NM_000263.4:c.1927C>T MANE Select | NP_000254.2:p.Arg643Cys |