Revel Score:
ENST00000374695 (MANE Select)
0.225
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10741155 (SAS)
Genomes Max Group AF
0.09854878 (SAS)
Exomes Max Group AF
0.10753127 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21852751C>T , CM000663.2:g.21852751C>T | GRCh38 |
| NC_000001.10:g.22179244C>T , CM000663.1:g.22179244C>T | GRCh37 |
| NC_000001.9:g.22051831C>T | NCBI36 |
| NG_016740.1:g.89507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6673G>A MANE Select | ENSP00000363827.3:p.Gly2225Ser | |
| ENST00000374695.7:c.6673G>A | ENSP00000363827.3:p.Gly2225Ser | |
| ENST00000493940.2:n.304+213G>A | ||
| NM_001291860.1:c.6676G>A | NP_001278789.1:p.Gly2226Ser | |
| NM_005529.6:c.6673G>A | NP_005520.4:p.Gly2225Ser | |
| XM_006710594.2:c.7219G>A | XP_006710657.1:p.Gly2407Ser | |
| XM_006710595.2:c.7171G>A | XP_006710658.1:p.Gly2391Ser | |
| XM_006710596.2:c.7150G>A | XP_006710659.1:p.Gly2384Ser | |
| XM_006710597.2:c.6673G>A | XP_006710660.1:p.Gly2225Ser | |
| XM_011541317.1:c.7222G>A | XP_011539619.1:p.Gly2408Ser | |
| XM_011541318.1:c.7222G>A | XP_011539620.1:p.Gly2408Ser | |
| XM_011541319.1:c.7222G>A | XP_011539621.1:p.Gly2408Ser | |
| XM_011541320.1:c.7140+168G>A | XP_011539622.1:n.7140+168G>A | |
| XM_011541321.1:c.6727G>A | XP_011539623.1:p.Gly2243Ser | |
| XM_011541322.1:c.7222G>A | XP_011539624.1:p.Gly2408Ser | |
| XM_011541318.2:c.7222G>A | XP_011539620.1:p.Gly2408Ser | |
| XM_017001120.1:c.6868G>A | XP_016856609.1:p.Gly2290Ser | |
| XM_017001121.1:c.6817G>A | XP_016856610.1:p.Gly2273Ser | |
| XM_017001122.1:c.6814G>A | XP_016856611.1:p.Gly2272Ser | |
| NM_005529.7:c.6673G>A MANE Select | NP_005520.4:p.Gly2225Ser | |
| NM_001291860.2:c.6676G>A | NP_001278789.1:p.Gly2226Ser |