ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00343315 (NFE)
Genomes Max Group AF
0.00302253 (NFE)
Exomes Max Group AF
0.00343915 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140783108T>C , CM000669.2:g.140783108T>C | GRCh38 |
| NC_000007.13:g.140482908T>C , CM000669.1:g.140482908T>C | GRCh37 |
| NC_000007.12:g.140129377T>C | NCBI36 |
| NG_007873.3:g.146657A>G , LRG_299:g.146657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1227A>G MANE Select | ENSP00000493543.1:p.Ser409= | |
| ENST00000288602.11:c.1347A>G | ENSP00000288602.7:p.Ser449= | |
| ENST00000496384.7:c.1227A>G | ENSP00000419060.2:p.Ser409= | |
| ENST00000497784.2:c.*677A>G | ENSP00000420119.2:n.*677A>G | |
| ENST00000642228.1:c.*305A>G | ENSP00000493678.1:n.*305A>G | |
| ENST00000642875.1:n.669A>G | ||
| ENST00000644120.1:n.1617A>G | ||
| ENST00000644650.1:c.323A>G | ||
| ENST00000644905.1:n.1316A>G | ||
| ENST00000644969.2:c.1347A>G MANE Plus Clinical | ENSP00000496776.1:p.Ser449= | |
| ENST00000646334.1:n.357A>G | ||
| ENST00000646730.1:c.1227A>G | ENSP00000494784.1:p.Ser409= | |
| ENST00000646891.1:c.1227A>G | ENSP00000493543.1:p.Ser409= | |
| ENST00000647434.1:c.270A>G | ENSP00000495132.1:p.Ser90= | |
| ENST00000288602.10:c.1227A>G | ENSP00000288602.6:p.Ser409= | |
| ENST00000496384.6:c.50A>G | ||
| ENST00000497784.1:c.1262A>G | ENSP00000420119.1:n.1262A>G | |
| NM_004333.4:c.1227A>G , LRG_299t1:c.1227A>G | NP_004324.2:p.Ser409= | |
| XM_005250045.1:c.1227A>G | XP_005250102.1:p.Ser409= | |
| XM_005250046.1:c.1227A>G | XP_005250103.1:p.Ser409= | |
| XM_011516529.1:c.1227A>G | XP_011514831.1:p.Ser409= | |
| XM_011516530.1:c.1227A>G | XP_011514832.1:p.Ser409= | |
| XR_242190.1:n.1235A>G | ||
| XR_927520.1:n.1235A>G | ||
| XR_927521.1:n.1235A>G | ||
| XR_927522.1:n.1235A>G | ||
| XR_927523.1:n.1235A>G | ||
| NM_001354609.1:c.1227A>G | NP_001341538.1:p.Ser409= | |
| NM_004333.5:c.1227A>G | NP_004324.2:p.Ser409= | |
| NR_148928.1:n.1532A>G | ||
| XM_017012558.1:c.1347A>G | XP_016868047.1:p.Ser449= | |
| XM_017012559.1:c.1347A>G | XP_016868048.1:p.Ser449= | |
| XR_001744857.1:n.1355A>G | ||
| XR_001744858.1:n.1355A>G | ||
| NM_001354609.2:c.1227A>G | NP_001341538.1:p.Ser409= | |
| NM_001374244.1:c.1347A>G | NP_001361173.1:p.Ser449= | |
| NM_001374258.1:c.1347A>G MANE Plus Clinical | NP_001361187.1:p.Ser449= | |
| NM_004333.6:c.1227A>G MANE Select | NP_004324.2:p.Ser409= | |
| NM_001378467.1:c.1236A>G | NP_001365396.1:p.Ser412= | |
| NM_001378468.1:c.1227A>G | NP_001365397.1:p.Ser409= | |
| NM_001378469.1:c.1178-17A>G | NP_001365398.1:n.1178-17A>G | |
| NM_001378470.1:c.1125A>G | NP_001365399.1:p.Ser375= | |
| NM_001378471.1:c.1141-25A>G | NP_001365400.1:n.1141-25A>G | |
| NM_001378472.1:c.1071A>G | NP_001365401.1:p.Ser357= | |
| NM_001378473.1:c.1071A>G | NP_001365402.1:p.Ser357= | |
| NM_001378474.1:c.1227A>G | NP_001365403.1:p.Ser409= | |
| NM_001378475.1:c.963A>G | NP_001365404.1:p.Ser321= |