Linked Data
ClinVar Variation Id:
6203
dbSNP Id:
rs121908686
ExAC:
22:38508565 C / T
gnomAD v2:
22-38508565-C-T
gnomAD v4:
22-38112558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38112558C>T , CM000684.2:g.38112558C>T | GRCh38 |
| NC_000022.10:g.38508565C>T , CM000684.1:g.38508565C>T | GRCh37 |
| NC_000022.9:g.36838511C>T | NCBI36 |
| NG_007094.2:g.98133G>A | |
| NG_033059.2:g.3112G>A | |
| NG_007094.3:g.107221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.2222G>A MANE Select | ENSP00000333142.3:p.Arg741Gln | |
| ENST00000436218.6:c.*1420G>A | ENSP00000401242.1:n.*1420G>A | |
| ENST00000655142.1:c.*1080G>A | ENSP00000499715.1:n.*1080G>A | |
| ENST00000660610.1:c.2222G>A | ENSP00000499555.1:p.Arg741Gln | |
| ENST00000663895.1:c.2222G>A | ENSP00000499712.1:p.Arg741Gln | |
| ENST00000664587.1:c.2084G>A | ENSP00000499394.1:p.Arg695Gln | |
| ENST00000665987.1:c.*1961G>A | ENSP00000499423.1:n.*1961G>A | |
| ENST00000667521.1:c.2222G>A | ENSP00000499665.1:p.Arg741Gln | |
| ENST00000668499.1:c.*2081G>A | ENSP00000499626.1:n.*2081G>A | |
| ENST00000668949.1:c.2264G>A | ENSP00000499711.1:p.Arg755Gln | |
| ENST00000671093.1:n.2154G>A | ||
| ENST00000673413.1:c.*1891G>A | ENSP00000500600.1:n.*1891G>A | |
| ENST00000332509.7:c.2222G>A | ENSP00000333142.3:p.Arg741Gln | |
| ENST00000335539.7:c.2060G>A | ENSP00000335149.3:p.Arg687Gln | |
| ENST00000402064.5:c.2060G>A | ENSP00000386100.1:p.Arg687Gln | |
| ENST00000463287.1:n.298G>A | ||
| NM_001004426.1:c.2060G>A | NP_001004426.1:p.Arg687Gln | |
| NM_001199562.1:c.2060G>A | NP_001186491.1:p.Arg687Gln | |
| NM_003560.2:c.2222G>A | NP_003551.2:p.Arg741Gln | |
| XM_005261764.1:c.2222G>A | XP_005261821.1:p.Arg741Gln | |
| XM_005261765.1:c.2222G>A | XP_005261822.1:p.Arg741Gln | |
| XM_005261766.1:c.2222G>A | XP_005261823.1:p.Arg741Gln | |
| XM_006724332.2:c.2222G>A | XP_006724395.1:p.Arg741Gln | |
| XM_011530422.1:c.2117G>A | XP_011528724.1:p.Arg706Gln | |
| XM_011530423.1:c.1688G>A | XP_011528725.1:p.Arg563Gln | |
| XM_011530424.1:c.1688G>A | XP_011528726.1:p.Arg563Gln | |
| XM_011530425.1:c.1688G>A | XP_011528727.1:p.Arg563Gln | |
| NM_001004426.2:c.2060G>A | NP_001004426.1:p.Arg687Gln | |
| NM_001199562.2:c.2060G>A | NP_001186491.1:p.Arg687Gln | |
| NM_001349864.1:c.2222G>A | NP_001336793.1:p.Arg741Gln | |
| NM_001349865.1:c.2060G>A | NP_001336794.1:p.Arg687Gln | |
| NM_001349866.1:c.2060G>A | NP_001336795.1:p.Arg687Gln | |
| NM_001349867.1:c.1688G>A | NP_001336796.1:p.Arg563Gln | |
| NM_001349868.1:c.1544G>A | NP_001336797.1:p.Arg515Gln | |
| NM_001349869.1:c.1526G>A | NP_001336798.1:p.Arg509Gln | |
| NM_003560.3:c.2222G>A | NP_003551.2:p.Arg741Gln | |
| XM_005261764.3:c.2222G>A | XP_005261821.1:p.Arg741Gln | |
| XM_005261765.2:c.2222G>A | XP_005261822.1:p.Arg741Gln | |
| XM_006724332.4:c.2222G>A | XP_006724395.1:p.Arg741Gln | |
| XM_017028983.1:c.1526G>A | XP_016884472.1:p.Arg509Gln | |
| XM_024452280.1:c.1688G>A | XP_024308048.1:p.Arg563Gln | |
| XM_024452281.1:c.1688G>A | XP_024308049.1:p.Arg563Gln | |
| XM_024452282.1:c.1688G>A | XP_024308050.1:p.Arg563Gln | |
| XM_024452283.1:c.1544G>A | XP_024308051.1:p.Arg515Gln | |
| XM_024452284.1:c.1526G>A | XP_024308052.1:p.Arg509Gln | |
| XM_024452285.1:c.1526G>A | XP_024308053.1:p.Arg509Gln | |
| XR_001755325.2:n.2405G>A | ||
| XR_001755327.2:n.2400G>A | ||
| XR_001755328.2:n.2366G>A | ||
| NM_001199562.3:c.2060G>A | NP_001186491.1:p.Arg687Gln | |
| NM_001349864.2:c.2222G>A | NP_001336793.1:p.Arg741Gln | |
| NM_001349865.2:c.2060G>A | NP_001336794.1:p.Arg687Gln | |
| NM_001349866.2:c.2060G>A | NP_001336795.1:p.Arg687Gln | |
| NM_001349867.2:c.1688G>A | NP_001336796.1:p.Arg563Gln | |
| NM_001349868.2:c.1544G>A | NP_001336797.1:p.Arg515Gln | |
| NM_001349869.2:c.1526G>A | NP_001336798.1:p.Arg509Gln | |
| NM_003560.4:c.2222G>A MANE Select | NP_003551.2:p.Arg741Gln | |
| NM_001004426.3:c.2060G>A | NP_001004426.1:p.Arg687Gln |