ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001567 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
Revel Score:
ENST00000321925 (MANE Select)
0.218
ENST00000415427
0.218
ENST00000502059
0.218
ENST00000402943
0.218
ENST00000535474
0.218
ENST00000436407
0.218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45739587T>C , CM000680.2:g.45739587T>C | GRCh38 |
| NC_000018.9:g.43319552T>C , CM000680.1:g.43319552T>C | GRCh37 |
| NC_000018.8:g.41573550T>C | NCBI36 |
| NG_011775.3:g.20461T>C | |
| NG_011775.4:g.57563T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321925.9:c.871T>C MANE Select | ENSP00000318546.4:p.Ser291Pro | |
| ENST00000502059.7:c.*224T>C | ENSP00000442180.2:n.*224T>C | |
| ENST00000586951.6:c.871T>C | ENSP00000465702.2:p.Ser291Pro | |
| ENST00000588179.6:c.*201T>C | ENSP00000467898.2:n.*201T>C | |
| ENST00000589322.7:c.475T>C | ENSP00000466273.3:p.Ser159Pro | |
| ENST00000321925.8:c.871T>C | ENSP00000318546.4:p.Ser291Pro | |
| ENST00000402943.6:c.556T>C | ENSP00000385320.2:p.Ser186Pro | |
| ENST00000415427.7:c.1039T>C | ENSP00000412309.2:p.Ser347Pro | |
| ENST00000436407.7:c.1039T>C | ENSP00000390637.2:p.Ser347Pro | |
| ENST00000502059.6:c.547T>C | ENSP00000442180.1:p.Ser183Pro | |
| ENST00000535474.5:c.475T>C | ENSP00000441998.1:p.Ser159Pro | |
| ENST00000586142.5:c.871T>C | ENSP00000470476.1:p.Ser291Pro | |
| ENST00000586854.1:n.304T>C | ||
| ENST00000588179.5:c.*201T>C | ENSP00000467898.2:n.*201T>C | |
| ENST00000589322.6:c.475T>C | ENSP00000466273.2:p.Ser159Pro | |
| ENST00000589700.5:c.723T>C | ENSP00000465044.1:p.Ala241= | |
| ENST00000590377.1:c.386+2939T>C | ||
| ENST00000591541.2:n.86T>C | ||
| ENST00000619403.4:c.723T>C | ENSP00000479595.1:p.Ala241= | |
| NM_001128588.3:c.1039T>C | NP_001122060.3:p.Ser347Pro | |
| NM_001146036.2:c.871T>C | NP_001139508.2:p.Ser291Pro | |
| NM_001146037.1:c.1039T>C | NP_001139509.1:p.Ser347Pro | |
| NM_001308278.1:c.556T>C | NP_001295207.1:p.Ser186Pro | |
| NM_001308279.1:c.475T>C | NP_001295208.1:p.Ser159Pro | |
| NM_015865.6:c.871T>C | NP_056949.4:p.Ser291Pro | |
| XM_005258329.1:c.1039T>C | XP_005258386.1:p.Ser347Pro | |
| XM_005258333.1:c.475T>C | XP_005258390.1:p.Ser159Pro | |
| XM_006722526.2:c.976T>C | XP_006722589.1:p.Ser326Pro | |
| XM_011526141.1:c.976T>C | XP_011524443.1:p.Ser326Pro | |
| XM_011526142.1:c.976T>C | XP_011524444.1:p.Ser326Pro | |
| XM_011526143.1:c.1039T>C | XP_011524445.1:p.Ser347Pro | |
| XM_011526144.1:c.1039T>C | XP_011524446.1:p.Ser347Pro | |
| XR_935425.1:n.680-1993A>G | ||
| NM_015865.7:c.871T>C MANE Select | NP_056949.4:p.Ser291Pro | |
| XM_006722526.3:c.976T>C | XP_006722589.1:p.Ser326Pro | |
| XM_024451238.1:c.871T>C | XP_024307006.1:p.Ser291Pro | |
| XR_001753266.1:n.1237T>C | ||
| XR_001753561.1:n.529-1993A>G | ||
| XR_935423.2:n.698-1993A>G | ||
| NM_001128588.4:c.1039T>C | NP_001122060.3:p.Ser347Pro | |
| NM_001146036.3:c.871T>C | NP_001139508.2:p.Ser291Pro | |
| NM_001308278.2:c.556T>C | NP_001295207.1:p.Ser186Pro | |
| NM_001308279.2:c.475T>C | NP_001295208.1:p.Ser159Pro |