Linked Data
ClinVar Variation Id:
429410
dbSNP Id:
rs112237881
ExAC:
13:100992428 A / T
gnomAD v2:
13-100992428-A-T
gnomAD v3:
13-100340174-A-T
gnomAD v4:
13-100340174-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100340174A>T , CM000675.2:g.100340174A>T | GRCh38 |
| NC_000013.10:g.100992428A>T , CM000675.1:g.100992428A>T | GRCh37 |
| NC_000013.9:g.99790429A>T | NCBI36 |
| NG_008768.1:g.256092A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.1558A>T MANE Select | ENSP00000365462.1:p.Ser520Cys | |
| ENST00000636366.1:c.944+66828A>T | ||
| ENST00000636475.1:c.1073A>T | ||
| ENST00000637657.1:c.1218A>T | ||
| ENST00000647303.1:c.*1042A>T | ENSP00000495663.1:n.*1042A>T | |
| ENST00000376279.7:c.1558A>T | ENSP00000365456.3:p.Ser520Cys | |
| ENST00000376285.5:c.1558A>T | ENSP00000365462.1:p.Ser520Cys | |
| ENST00000376286.8:c.1480A>T | ENSP00000365463.4:p.Ser494Cys | |
| ENST00000424527.5:c.160A>T | ENSP00000396050.1:p.Ser54Cys | |
| ENST00000443601.1:c.333A>T | ||
| NM_000282.3:c.1558A>T | NP_000273.2:p.Ser520Cys | |
| NM_001127692.2:c.1480A>T | NP_001121164.1:p.Ser494Cys | |
| NM_001178004.1:c.1558A>T | NP_001171475.1:p.Ser520Cys | |
| XM_005254059.2:c.1558A>T | XP_005254116.1:p.Ser520Cys | |
| XM_011521093.1:c.1558A>T | XP_011519395.1:p.Ser520Cys | |
| XR_931615.1:n.1659A>T | ||
| XR_931677.1:n.284-369T>A | ||
| XR_931678.1:n.355-369T>A | ||
| XR_931679.1:n.355-369T>A | ||
| XR_931680.1:n.355-369T>A | ||
| XR_931681.1:n.355-369T>A | ||
| XR_931682.1:n.355-369T>A | ||
| XR_931683.1:n.355-6570T>A | ||
| NM_001352605.1:c.1558A>T | NP_001339534.1:p.Ser520Cys | |
| NM_001352606.1:c.1414A>T | NP_001339535.1:p.Ser472Cys | |
| NM_001352607.1:c.1480A>T | NP_001339536.1:p.Ser494Cys | |
| NM_001352608.1:c.1336A>T | NP_001339537.1:p.Ser446Cys | |
| NM_001352609.1:c.1558A>T | NP_001339538.1:p.Ser520Cys | |
| NM_001352610.1:c.613A>T | NP_001339539.1:p.Ser205Cys | |
| NM_001352611.1:c.613A>T | NP_001339540.1:p.Ser205Cys | |
| NM_001352612.1:c.469A>T | NP_001339541.1:p.Ser157Cys | |
| NR_148027.1:n.1748A>T | ||
| NR_148028.1:n.1748A>T | ||
| NR_148029.1:n.1670A>T | ||
| NR_148030.1:n.1748A>T | ||
| NR_148031.1:n.1664A>T | ||
| XM_017020605.1:c.1558A>T | XP_016876094.1:p.Ser520Cys | |
| XM_017020606.1:c.1480A>T | XP_016876095.1:p.Ser494Cys | |
| XM_017020607.1:c.1459A>T | XP_016876096.1:p.Ser487Cys | |
| XM_017020609.1:c.1459A>T | XP_016876098.1:p.Ser487Cys | |
| XM_017020611.1:c.1558A>T | XP_016876100.1:p.Ser520Cys | |
| XM_017020612.1:c.1558A>T | XP_016876101.1:p.Ser520Cys | |
| XM_017020613.1:c.1558A>T | XP_016876102.1:p.Ser520Cys | |
| XM_017020615.1:c.1558A>T | XP_016876104.1:p.Ser520Cys | |
| XM_017020616.1:c.1558A>T | XP_016876105.1:p.Ser520Cys | |
| XR_001749567.1:n.1659A>T | ||
| XR_001749568.1:n.1659A>T | ||
| XR_001749569.1:n.1659A>T | ||
| XR_001749574.1:n.1594A>T | ||
| XR_001749576.1:n.1295A>T | ||
| XR_001749577.1:n.1295A>T | ||
| XR_001749974.1:n.355-369T>A | ||
| XR_001749976.1:n.276-369T>A | ||
| XR_001749977.1:n.355-369T>A | ||
| XR_001749978.1:n.284-369T>A | ||
| XR_001749979.1:n.198-369T>A | ||
| NM_000282.4:c.1558A>T MANE Select | NP_000273.2:p.Ser520Cys | |
| NM_001352605.2:c.1558A>T | NP_001339534.1:p.Ser520Cys | |
| NM_001352606.2:c.1414A>T | NP_001339535.1:p.Ser472Cys | |
| NM_001352607.2:c.1480A>T | NP_001339536.1:p.Ser494Cys | |
| NM_001352608.2:c.1336A>T | NP_001339537.1:p.Ser446Cys | |
| NM_001352609.2:c.1558A>T | NP_001339538.1:p.Ser520Cys | |
| NM_001352610.2:c.613A>T | NP_001339539.1:p.Ser205Cys | |
| NM_001352611.2:c.613A>T | NP_001339540.1:p.Ser205Cys | |
| NM_001352612.2:c.469A>T | NP_001339541.1:p.Ser157Cys | |
| NR_148027.2:n.1670A>T | ||
| NR_148028.2:n.1670A>T | ||
| NR_148029.2:n.1592A>T | ||
| NR_148030.2:n.1670A>T | ||
| NR_148031.2:n.1586A>T | ||
| NM_001127692.3:c.1480A>T | NP_001121164.1:p.Ser494Cys | |
| NM_001178004.2:c.1558A>T | NP_001171475.1:p.Ser520Cys |