Linked Data
ClinVar Variation Id:
2154239
dbSNP Id:
rs201161254
ExAC:
22:38519181 C / T
gnomAD v2:
22-38519181-C-T
gnomAD v3:
22-38123174-C-T
gnomAD v4:
22-38123174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38123174C>T , CM000684.2:g.38123174C>T | GRCh38 |
| NC_000022.10:g.38519181C>T , CM000684.1:g.38519181C>T | GRCh37 |
| NC_000022.9:g.36849127C>T | NCBI36 |
| NG_007094.2:g.87517G>A | |
| NG_007094.3:g.96605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1512G>A MANE Select | ENSP00000333142.3:p.Ser504= | |
| ENST00000427114.6:c.816G>A | ENSP00000407743.2:p.Ser272= | |
| ENST00000436218.6:c.*710G>A | ENSP00000401242.1:n.*710G>A | |
| ENST00000655142.1:c.*370G>A | ENSP00000499715.1:n.*370G>A | |
| ENST00000660610.1:c.1512G>A | ENSP00000499555.1:p.Ser504= | |
| ENST00000663895.1:c.1512G>A | ENSP00000499712.1:p.Ser504= | |
| ENST00000664587.1:c.1374G>A | ENSP00000499394.1:p.Ser458= | |
| ENST00000665987.1:c.*1251G>A | ENSP00000499423.1:n.*1251G>A | |
| ENST00000667521.1:c.1512G>A | ENSP00000499665.1:p.Ser504= | |
| ENST00000668208.1:n.1480G>A | ||
| ENST00000668499.1:c.*1234G>A | ENSP00000499626.1:n.*1234G>A | |
| ENST00000668949.1:c.1350G>A | ENSP00000499711.1:p.Ser450= | |
| ENST00000671093.1:n.1444G>A | ||
| ENST00000673413.1:c.*1181G>A | ENSP00000500600.1:n.*1181G>A | |
| ENST00000332509.7:c.1512G>A | ENSP00000333142.3:p.Ser504= | |
| ENST00000335539.7:c.1350G>A | ENSP00000335149.3:p.Ser450= | |
| ENST00000402064.5:c.1350G>A | ENSP00000386100.1:p.Ser450= | |
| ENST00000448094.5:c.*117G>A | ENSP00000407106.1:n.*117G>A | |
| ENST00000454670.1:c.157G>A | ||
| ENST00000491986.1:n.523G>A | ||
| NM_001004426.1:c.1350G>A | NP_001004426.1:p.Ser450= | |
| NM_001199562.1:c.1350G>A | NP_001186491.1:p.Ser450= | |
| NM_003560.2:c.1512G>A | NP_003551.2:p.Ser504= | |
| XM_005261764.1:c.1512G>A | XP_005261821.1:p.Ser504= | |
| XM_005261765.1:c.1512G>A | XP_005261822.1:p.Ser504= | |
| XM_005261766.1:c.1512G>A | XP_005261823.1:p.Ser504= | |
| XM_006724332.2:c.1512G>A | XP_006724395.1:p.Ser504= | |
| XM_011530422.1:c.1407G>A | XP_011528724.1:p.Ser469= | |
| XM_011530423.1:c.978G>A | XP_011528725.1:p.Ser326= | |
| XM_011530424.1:c.978G>A | XP_011528726.1:p.Ser326= | |
| XM_011530425.1:c.978G>A | XP_011528727.1:p.Ser326= | |
| XM_011530426.1:c.1512G>A | XP_011528728.1:p.Ser504= | |
| XR_244390.1:n.1620G>A | ||
| XR_244392.1:n.1673G>A | ||
| XR_430411.1:n.1672G>A | ||
| XR_430412.1:n.1725G>A | ||
| XR_937937.1:n.1620G>A | ||
| XR_937938.1:n.1620G>A | ||
| XR_937939.1:n.1672G>A | ||
| XR_937940.1:n.1672G>A | ||
| NM_001004426.2:c.1350G>A | NP_001004426.1:p.Ser450= | |
| NM_001199562.2:c.1350G>A | NP_001186491.1:p.Ser450= | |
| NM_001349864.1:c.1512G>A | NP_001336793.1:p.Ser504= | |
| NM_001349865.1:c.1350G>A | NP_001336794.1:p.Ser450= | |
| NM_001349866.1:c.1350G>A | NP_001336795.1:p.Ser450= | |
| NM_001349867.1:c.978G>A | NP_001336796.1:p.Ser326= | |
| NM_001349868.1:c.834G>A | NP_001336797.1:p.Ser278= | |
| NM_001349869.1:c.816G>A | NP_001336798.1:p.Ser272= | |
| NM_003560.3:c.1512G>A | NP_003551.2:p.Ser504= | |
| XM_005261764.3:c.1512G>A | XP_005261821.1:p.Ser504= | |
| XM_005261765.2:c.1512G>A | XP_005261822.1:p.Ser504= | |
| XM_006724332.4:c.1512G>A | XP_006724395.1:p.Ser504= | |
| XM_011530426.3:c.1512G>A | XP_011528728.1:p.Ser504= | |
| XM_017028983.1:c.816G>A | XP_016884472.1:p.Ser272= | |
| XM_017028986.2:c.1350G>A | XP_016884475.1:p.Ser450= | |
| XM_017028987.2:c.*117G>A | XP_016884476.1:n.*117G>A | |
| XM_017028988.2:c.*125G>A | XP_016884477.1:n.*125G>A | |
| XM_024452280.1:c.978G>A | XP_024308048.1:p.Ser326= | |
| XM_024452281.1:c.978G>A | XP_024308049.1:p.Ser326= | |
| XM_024452282.1:c.978G>A | XP_024308050.1:p.Ser326= | |
| XM_024452283.1:c.834G>A | XP_024308051.1:p.Ser278= | |
| XM_024452284.1:c.816G>A | XP_024308052.1:p.Ser272= | |
| XM_024452285.1:c.816G>A | XP_024308053.1:p.Ser272= | |
| XR_001755325.2:n.1604G>A | ||
| XR_001755327.2:n.1604G>A | ||
| XR_001755328.2:n.1656G>A | ||
| XR_244390.3:n.1604G>A | ||
| XR_937938.3:n.1604G>A | ||
| XR_937939.3:n.1656G>A | ||
| XR_937940.3:n.1656G>A | ||
| NM_001199562.3:c.1350G>A | NP_001186491.1:p.Ser450= | |
| NM_001349864.2:c.1512G>A | NP_001336793.1:p.Ser504= | |
| NM_001349865.2:c.1350G>A | NP_001336794.1:p.Ser450= | |
| NM_001349866.2:c.1350G>A | NP_001336795.1:p.Ser450= | |
| NM_001349867.2:c.978G>A | NP_001336796.1:p.Ser326= | |
| NM_001349868.2:c.834G>A | NP_001336797.1:p.Ser278= | |
| NM_001349869.2:c.816G>A | NP_001336798.1:p.Ser272= | |
| NM_003560.4:c.1512G>A MANE Select | NP_003551.2:p.Ser504= | |
| NM_001004426.3:c.1350G>A | NP_001004426.1:p.Ser450= |