Revel Score:
ENST00000254722 (MANE Select)
0.903
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01026825 (MID)
Genomes Max Group AF
0.00191463 (SAS)
Exomes Max Group AF
0.01047868 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1770009C>G , CM000679.2:g.1770009C>G | GRCh38 |
| NC_000017.10:g.1673303C>G , CM000679.1:g.1673303C>G | GRCh37 |
| NC_000017.9:g.1620053C>G | NCBI36 |
| NG_028180.1:g.13045C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.242C>G MANE Select | ENSP00000254722.4:p.Ser81Cys | |
| ENST00000254722.8:c.242C>G | ENSP00000254722.4:p.Ser81Cys | |
| ENST00000570731.5:c.242C>G | ENSP00000459869.1:p.Ser81Cys | |
| ENST00000571149.5:c.242C>G | ENSP00000460905.1:p.Ser81Cys | |
| ENST00000571360.5:c.203C>G | ENSP00000461660.1:p.Ser68Cys | |
| ENST00000571870.5:n.483C>G | ||
| ENST00000573770.5:c.242C>G | ENSP00000459107.1:p.Ser81Cys | |
| ENST00000576406.5:c.-320C>G | ENSP00000461214.1:n.-320C>G | |
| ENST00000577053.1:c.242C>G | ENSP00000460842.1:p.Ser81Cys | |
| NM_002615.5:c.242C>G | NP_002606.3:p.Ser81Cys | |
| NM_001329903.1:c.242C>G | NP_001316832.1:p.Ser81Cys | |
| NM_001329904.1:c.-320C>G | NP_001316833.1:n.-320C>G | |
| NM_002615.6:c.242C>G | NP_002606.3:p.Ser81Cys | |
| NM_002615.7:c.242C>G MANE Select | NP_002606.3:p.Ser81Cys | |
| NM_001329903.2:c.242C>G | NP_001316832.1:p.Ser81Cys | |
| NM_001329904.2:c.-320C>G | NP_001316833.1:n.-320C>G |