Linked Data
ClinVar Variation Id:
341646
dbSNP Id:
rs371920697
ExAC:
22:38539280 C / T
gnomAD v2:
22-38539280-C-T
gnomAD v3:
22-38143273-C-T
gnomAD v4:
22-38143273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38143273C>T , CM000684.2:g.38143273C>T | GRCh38 |
| NC_000022.10:g.38539280C>T , CM000684.1:g.38539280C>T | GRCh37 |
| NC_000022.9:g.36869226C>T | NCBI36 |
| NG_007094.2:g.67418G>A | |
| NG_007094.3:g.76506G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.441G>A MANE Select | ENSP00000333142.3:p.Ala147= | |
| ENST00000427114.6:c.-94G>A | ENSP00000407743.2:n.-94G>A | |
| ENST00000436218.6:c.425+2165G>A | ENSP00000401242.1:n.425+2165G>A | |
| ENST00000655142.1:c.441G>A | ENSP00000499715.1:p.Ala147= | |
| ENST00000660610.1:c.441G>A | ENSP00000499555.1:p.Ala147= | |
| ENST00000663895.1:c.441G>A | ENSP00000499712.1:p.Ala147= | |
| ENST00000664587.1:c.441G>A | ENSP00000499394.1:p.Ala147= | |
| ENST00000665987.1:c.*342G>A | ENSP00000499423.1:n.*342G>A | |
| ENST00000667521.1:c.441G>A | ENSP00000499665.1:p.Ala147= | |
| ENST00000668208.1:n.571G>A | ||
| ENST00000668499.1:c.*272G>A | ENSP00000499626.1:n.*272G>A | |
| ENST00000668949.1:c.441G>A | ENSP00000499711.1:p.Ala147= | |
| ENST00000671093.1:n.535G>A | ||
| ENST00000673413.1:c.*272G>A | ENSP00000500600.1:n.*272G>A | |
| ENST00000332509.7:c.441G>A | ENSP00000333142.3:p.Ala147= | |
| ENST00000335539.7:c.441G>A | ENSP00000335149.3:p.Ala147= | |
| ENST00000402064.5:c.441G>A | ENSP00000386100.1:p.Ala147= | |
| ENST00000427114.5:c.43G>A | ||
| ENST00000430886.5:c.225G>A | ENSP00000395464.1:p.Ala75= | |
| ENST00000436218.5:c.425+2165G>A | ENSP00000401242.1:n.425+2165G>A | |
| ENST00000445591.5:n.490G>A | ||
| ENST00000452972.1:n.488G>A | ||
| ENST00000471636.5:n.376+2290G>A | ||
| ENST00000479641.5:n.367G>A | ||
| ENST00000498338.1:c.-94G>A | ENSP00000472058.1:n.-94G>A | |
| NM_001004426.1:c.441G>A | NP_001004426.1:p.Ala147= | |
| NM_001199562.1:c.441G>A | NP_001186491.1:p.Ala147= | |
| NM_003560.2:c.441G>A | NP_003551.2:p.Ala147= | |
| XM_005261764.1:c.441G>A | XP_005261821.1:p.Ala147= | |
| XM_005261765.1:c.441G>A | XP_005261822.1:p.Ala147= | |
| XM_005261766.1:c.441G>A | XP_005261823.1:p.Ala147= | |
| XM_005261771.3:c.441G>A | XP_005261828.1:p.Ala147= | |
| XM_006724332.2:c.441G>A | XP_006724395.1:p.Ala147= | |
| XM_011530422.1:c.524G>A | XP_011528724.1:p.Arg175Gln | |
| XM_011530423.1:c.-94G>A | XP_011528725.1:n.-94G>A | |
| XM_011530424.1:c.-94G>A | XP_011528726.1:n.-94G>A | |
| XM_011530425.1:c.-94G>A | XP_011528727.1:n.-94G>A | |
| XM_011530426.1:c.441G>A | XP_011528728.1:p.Ala147= | |
| XM_011530427.1:c.524G>A | XP_011528729.1:p.Arg175Gln | |
| XM_011530428.1:c.441G>A | XP_011528730.1:p.Ala147= | |
| XR_244390.1:n.549G>A | ||
| XR_244392.1:n.549G>A | ||
| XR_430411.1:n.549G>A | ||
| XR_430412.1:n.549G>A | ||
| XR_937937.1:n.549G>A | ||
| XR_937938.1:n.549G>A | ||
| XR_937939.1:n.549G>A | ||
| XR_937940.1:n.549G>A | ||
| NM_001004426.2:c.441G>A | NP_001004426.1:p.Ala147= | |
| NM_001199562.2:c.441G>A | NP_001186491.1:p.Ala147= | |
| NM_001349864.1:c.441G>A | NP_001336793.1:p.Ala147= | |
| NM_001349865.1:c.441G>A | NP_001336794.1:p.Ala147= | |
| NM_001349866.1:c.441G>A | NP_001336795.1:p.Ala147= | |
| NM_001349867.1:c.-94G>A | NP_001336796.1:n.-94G>A | |
| NM_001349868.1:c.-50G>A | NP_001336797.1:n.-50G>A | |
| NM_001349869.1:c.-94G>A | NP_001336798.1:n.-94G>A | |
| NM_003560.3:c.441G>A | NP_003551.2:p.Ala147= | |
| XM_005261764.3:c.441G>A | XP_005261821.1:p.Ala147= | |
| XM_005261765.2:c.441G>A | XP_005261822.1:p.Ala147= | |
| XM_006724332.4:c.441G>A | XP_006724395.1:p.Ala147= | |
| XM_011530426.3:c.441G>A | XP_011528728.1:p.Ala147= | |
| XM_017028983.1:c.-94G>A | XP_016884472.1:n.-94G>A | |
| XM_017028986.2:c.441G>A | XP_016884475.1:p.Ala147= | |
| XM_017028987.2:c.441G>A | XP_016884476.1:p.Ala147= | |
| XM_017028988.2:c.441G>A | XP_016884477.1:p.Ala147= | |
| XM_024452280.1:c.-94G>A | XP_024308048.1:n.-94G>A | |
| XM_024452281.1:c.-94G>A | XP_024308049.1:n.-94G>A | |
| XM_024452282.1:c.-94G>A | XP_024308050.1:n.-94G>A | |
| XM_024452283.1:c.-50G>A | XP_024308051.1:n.-50G>A | |
| XM_024452284.1:c.-94G>A | XP_024308052.1:n.-94G>A | |
| XM_024452285.1:c.-94G>A | XP_024308053.1:n.-94G>A | |
| XR_001755325.2:n.533G>A | ||
| XR_001755327.2:n.533G>A | ||
| XR_001755328.2:n.533G>A | ||
| XR_244390.3:n.533G>A | ||
| XR_937938.3:n.533G>A | ||
| XR_937939.3:n.533G>A | ||
| XR_937940.3:n.533G>A | ||
| NM_001199562.3:c.441G>A | NP_001186491.1:p.Ala147= | |
| NM_001349864.2:c.441G>A | NP_001336793.1:p.Ala147= | |
| NM_001349865.2:c.441G>A | NP_001336794.1:p.Ala147= | |
| NM_001349866.2:c.441G>A | NP_001336795.1:p.Ala147= | |
| NM_001349867.2:c.-94G>A | NP_001336796.1:n.-94G>A | |
| NM_001349868.2:c.-50G>A | NP_001336797.1:n.-50G>A | |
| NM_001349869.2:c.-94G>A | NP_001336798.1:n.-94G>A | |
| NM_003560.4:c.441G>A MANE Select | NP_003551.2:p.Ala147= | |
| NM_001004426.3:c.441G>A | NP_001004426.1:p.Ala147= |