Linked Data
ClinVar Variation Id:
411367
dbSNP Id:
rs777604445
ExAC:
5:112177085 A / T
gnomAD v2:
5-112177085-A-T
gnomAD v4:
5-112841388-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841388A>T , CM000667.2:g.112841388A>T | GRCh38 |
| NC_000005.9:g.112177085A>T , CM000667.1:g.112177085A>T | GRCh37 |
| NC_000005.8:g.112204984A>T | NCBI36 |
| NG_008481.4:g.153868A>T , LRG_130:g.153868A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5848A>T | ENSP00000473355.2:p.Thr1950Ser | |
| ENST00000505350.2:c.*5800A>T | ENSP00000481752.1:n.*5800A>T | |
| ENST00000507379.6:c.5740A>T | ENSP00000423224.2:p.Thr1914Ser | |
| ENST00000509732.6:c.5794A>T | ENSP00000426541.2:p.Thr1932Ser | |
| ENST00000512211.7:c.5794A>T | ENSP00000423828.3:p.Thr1932Ser | |
| ENST00000257430.9:c.5794A>T MANE Select | ENSP00000257430.4:p.Thr1932Ser | |
| ENST00000257430.8:c.5794A>T | ENSP00000257430.4:p.Thr1932Ser | |
| ENST00000508376.6:c.5794A>T | ENSP00000427089.2:p.Thr1932Ser | |
| ENST00000508624.5:c.*5116A>T | ENSP00000424265.1:n.*5116A>T | |
| ENST00000520401.1:c.230+12416A>T | ||
| NM_000038.5:c.5794A>T | NP_000029.2:p.Thr1932Ser | |
| NM_001127510.2:c.5794A>T | NP_001120982.1:p.Thr1932Ser | |
| NM_001127511.2:c.5740A>T | NP_001120983.2:p.Thr1914Ser | |
| NM_001354895.1:c.5794A>T | NP_001341824.1:p.Thr1932Ser | |
| NM_001354896.1:c.5848A>T | NP_001341825.1:p.Thr1950Ser | |
| NM_001354897.1:c.5824A>T | NP_001341826.1:p.Thr1942Ser | |
| NM_001354898.1:c.5719A>T | NP_001341827.1:p.Thr1907Ser | |
| NM_001354899.1:c.5710A>T | NP_001341828.1:p.Thr1904Ser | |
| NM_001354900.1:c.5671A>T | NP_001341829.1:p.Thr1891Ser | |
| NM_001354901.1:c.5617A>T | NP_001341830.1:p.Thr1873Ser | |
| NM_001354902.1:c.5521A>T | NP_001341831.1:p.Thr1841Ser | |
| NM_001354903.1:c.5491A>T | NP_001341832.1:p.Thr1831Ser | |
| NM_001354904.1:c.5416A>T | NP_001341833.1:p.Thr1806Ser | |
| NM_001354905.1:c.5314A>T | NP_001341834.1:p.Thr1772Ser | |
| NM_001354906.1:c.4945A>T | NP_001341835.1:p.Thr1649Ser | |
| NM_000038.6:c.5794A>T MANE Select | NP_000029.2:p.Thr1932Ser | |
| NM_001127510.3:c.5794A>T | NP_001120982.1:p.Thr1932Ser | |
| NM_001127511.3:c.5740A>T | NP_001120983.2:p.Thr1914Ser | |
| NM_001354895.2:c.5794A>T | NP_001341824.1:p.Thr1932Ser | |
| NM_001354896.2:c.5848A>T | NP_001341825.1:p.Thr1950Ser | |
| NM_001354897.2:c.5824A>T | NP_001341826.1:p.Thr1942Ser | |
| NM_001354898.2:c.5719A>T | NP_001341827.1:p.Thr1907Ser | |
| NM_001354899.2:c.5710A>T | NP_001341828.1:p.Thr1904Ser | |
| NM_001354900.2:c.5671A>T | NP_001341829.1:p.Thr1891Ser | |
| NM_001354901.2:c.5617A>T | NP_001341830.1:p.Thr1873Ser | |
| NM_001354902.2:c.5521A>T | NP_001341831.1:p.Thr1841Ser | |
| NM_001354903.2:c.5491A>T | NP_001341832.1:p.Thr1831Ser | |
| NM_001354904.2:c.5416A>T | NP_001341833.1:p.Thr1806Ser | |
| NM_001354905.2:c.5314A>T | NP_001341834.1:p.Thr1772Ser | |
| NM_001354906.2:c.4945A>T | NP_001341835.1:p.Thr1649Ser |