Linked Data
ClinVar Variation Id:
187282
ClinVar RCV Id:
RCV000167000
RCV000455669
RCV000677738
RCV002260627
RCV001358361
RCV003975238
RCV003323298
RCV003743616
RCV003995547
dbSNP Id:
rs754691867
ExAC:
5:112177203 C / G
gnomAD v2:
5-112177203-C-G
gnomAD v3:
5-112841506-C-G
gnomAD v4:
5-112841506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841506C>G , CM000667.2:g.112841506C>G | GRCh38 |
| NC_000005.9:g.112177203C>G , CM000667.1:g.112177203C>G | GRCh37 |
| NC_000005.8:g.112205102C>G | NCBI36 |
| NG_008481.4:g.153986C>G , LRG_130:g.153986C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5966C>G | ENSP00000473355.2:p.Ser1989Cys | |
| ENST00000505350.2:c.*5918C>G | ENSP00000481752.1:n.*5918C>G | |
| ENST00000507379.6:c.5858C>G | ENSP00000423224.2:p.Ser1953Cys | |
| ENST00000509732.6:c.5912C>G | ENSP00000426541.2:p.Ser1971Cys | |
| ENST00000512211.7:c.5912C>G | ENSP00000423828.3:p.Ser1971Cys | |
| ENST00000257430.9:c.5912C>G MANE Select | ENSP00000257430.4:p.Ser1971Cys | |
| ENST00000257430.8:c.5912C>G | ENSP00000257430.4:p.Ser1971Cys | |
| ENST00000508376.6:c.5912C>G | ENSP00000427089.2:p.Ser1971Cys | |
| ENST00000508624.5:c.*5234C>G | ENSP00000424265.1:n.*5234C>G | |
| ENST00000520401.1:c.230+12534C>G | ||
| NM_000038.5:c.5912C>G | NP_000029.2:p.Ser1971Cys | |
| NM_001127510.2:c.5912C>G | NP_001120982.1:p.Ser1971Cys | |
| NM_001127511.2:c.5858C>G | NP_001120983.2:p.Ser1953Cys | |
| NM_001354895.1:c.5912C>G | NP_001341824.1:p.Ser1971Cys | |
| NM_001354896.1:c.5966C>G | NP_001341825.1:p.Ser1989Cys | |
| NM_001354897.1:c.5942C>G | NP_001341826.1:p.Ser1981Cys | |
| NM_001354898.1:c.5837C>G | NP_001341827.1:p.Ser1946Cys | |
| NM_001354899.1:c.5828C>G | NP_001341828.1:p.Ser1943Cys | |
| NM_001354900.1:c.5789C>G | NP_001341829.1:p.Ser1930Cys | |
| NM_001354901.1:c.5735C>G | NP_001341830.1:p.Ser1912Cys | |
| NM_001354902.1:c.5639C>G | NP_001341831.1:p.Ser1880Cys | |
| NM_001354903.1:c.5609C>G | NP_001341832.1:p.Ser1870Cys | |
| NM_001354904.1:c.5534C>G | NP_001341833.1:p.Ser1845Cys | |
| NM_001354905.1:c.5432C>G | NP_001341834.1:p.Ser1811Cys | |
| NM_001354906.1:c.5063C>G | NP_001341835.1:p.Ser1688Cys | |
| NM_000038.6:c.5912C>G MANE Select | NP_000029.2:p.Ser1971Cys | |
| NM_001127510.3:c.5912C>G | NP_001120982.1:p.Ser1971Cys | |
| NM_001127511.3:c.5858C>G | NP_001120983.2:p.Ser1953Cys | |
| NM_001354895.2:c.5912C>G | NP_001341824.1:p.Ser1971Cys | |
| NM_001354896.2:c.5966C>G | NP_001341825.1:p.Ser1989Cys | |
| NM_001354897.2:c.5942C>G | NP_001341826.1:p.Ser1981Cys | |
| NM_001354898.2:c.5837C>G | NP_001341827.1:p.Ser1946Cys | |
| NM_001354899.2:c.5828C>G | NP_001341828.1:p.Ser1943Cys | |
| NM_001354900.2:c.5789C>G | NP_001341829.1:p.Ser1930Cys | |
| NM_001354901.2:c.5735C>G | NP_001341830.1:p.Ser1912Cys | |
| NM_001354902.2:c.5639C>G | NP_001341831.1:p.Ser1880Cys | |
| NM_001354903.2:c.5609C>G | NP_001341832.1:p.Ser1870Cys | |
| NM_001354904.2:c.5534C>G | NP_001341833.1:p.Ser1845Cys | |
| NM_001354905.2:c.5432C>G | NP_001341834.1:p.Ser1811Cys | |
| NM_001354906.2:c.5063C>G | NP_001341835.1:p.Ser1688Cys |