Linked Data
ClinVar Variation Id:
127307
dbSNP Id:
rs587779799
ExAC:
5:112176926 G / T
gnomAD v2:
5-112176926-G-T
gnomAD v3:
5-112841229-G-T
gnomAD v4:
5-112841229-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841229G>T , CM000667.2:g.112841229G>T | GRCh38 |
| NC_000005.9:g.112176926G>T , CM000667.1:g.112176926G>T | GRCh37 |
| NC_000005.8:g.112204825G>T | NCBI36 |
| NG_008481.4:g.153709G>T , LRG_130:g.153709G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5689G>T | ENSP00000473355.2:p.Ala1897Ser | |
| ENST00000505350.2:c.*5641G>T | ENSP00000481752.1:n.*5641G>T | |
| ENST00000507379.6:c.5581G>T | ENSP00000423224.2:p.Ala1861Ser | |
| ENST00000509732.6:c.5635G>T | ENSP00000426541.2:p.Ala1879Ser | |
| ENST00000512211.7:c.5635G>T | ENSP00000423828.3:p.Ala1879Ser | |
| ENST00000257430.9:c.5635G>T MANE Select | ENSP00000257430.4:p.Ala1879Ser | |
| ENST00000257430.8:c.5635G>T | ENSP00000257430.4:p.Ala1879Ser | |
| ENST00000508376.6:c.5635G>T | ENSP00000427089.2:p.Ala1879Ser | |
| ENST00000508624.5:c.*4957G>T | ENSP00000424265.1:n.*4957G>T | |
| ENST00000520401.1:c.230+12257G>T | ||
| NM_000038.5:c.5635G>T | NP_000029.2:p.Ala1879Ser | |
| NM_001127510.2:c.5635G>T | NP_001120982.1:p.Ala1879Ser | |
| NM_001127511.2:c.5581G>T | NP_001120983.2:p.Ala1861Ser | |
| NM_001354895.1:c.5635G>T | NP_001341824.1:p.Ala1879Ser | |
| NM_001354896.1:c.5689G>T | NP_001341825.1:p.Ala1897Ser | |
| NM_001354897.1:c.5665G>T | NP_001341826.1:p.Ala1889Ser | |
| NM_001354898.1:c.5560G>T | NP_001341827.1:p.Ala1854Ser | |
| NM_001354899.1:c.5551G>T | NP_001341828.1:p.Ala1851Ser | |
| NM_001354900.1:c.5512G>T | NP_001341829.1:p.Ala1838Ser | |
| NM_001354901.1:c.5458G>T | NP_001341830.1:p.Ala1820Ser | |
| NM_001354902.1:c.5362G>T | NP_001341831.1:p.Ala1788Ser | |
| NM_001354903.1:c.5332G>T | NP_001341832.1:p.Ala1778Ser | |
| NM_001354904.1:c.5257G>T | NP_001341833.1:p.Ala1753Ser | |
| NM_001354905.1:c.5155G>T | NP_001341834.1:p.Ala1719Ser | |
| NM_001354906.1:c.4786G>T | NP_001341835.1:p.Ala1596Ser | |
| NM_000038.6:c.5635G>T MANE Select | NP_000029.2:p.Ala1879Ser | |
| NM_001127510.3:c.5635G>T | NP_001120982.1:p.Ala1879Ser | |
| NM_001127511.3:c.5581G>T | NP_001120983.2:p.Ala1861Ser | |
| NM_001354895.2:c.5635G>T | NP_001341824.1:p.Ala1879Ser | |
| NM_001354896.2:c.5689G>T | NP_001341825.1:p.Ala1897Ser | |
| NM_001354897.2:c.5665G>T | NP_001341826.1:p.Ala1889Ser | |
| NM_001354898.2:c.5560G>T | NP_001341827.1:p.Ala1854Ser | |
| NM_001354899.2:c.5551G>T | NP_001341828.1:p.Ala1851Ser | |
| NM_001354900.2:c.5512G>T | NP_001341829.1:p.Ala1838Ser | |
| NM_001354901.2:c.5458G>T | NP_001341830.1:p.Ala1820Ser | |
| NM_001354902.2:c.5362G>T | NP_001341831.1:p.Ala1788Ser | |
| NM_001354903.2:c.5332G>T | NP_001341832.1:p.Ala1778Ser | |
| NM_001354904.2:c.5257G>T | NP_001341833.1:p.Ala1753Ser | |
| NM_001354905.2:c.5155G>T | NP_001341834.1:p.Ala1719Ser | |
| NM_001354906.2:c.4786G>T | NP_001341835.1:p.Ala1596Ser |