Linked Data
ClinVar Variation Id:
490312
dbSNP Id:
rs1417046511
gnomAD v2:
5-112176949-A-G
gnomAD v4:
5-112841252-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841252A>G , CM000667.2:g.112841252A>G | GRCh38 |
| NC_000005.9:g.112176949A>G , CM000667.1:g.112176949A>G | GRCh37 |
| NC_000005.8:g.112204848A>G | NCBI36 |
| NG_008481.4:g.153732A>G , LRG_130:g.153732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5712A>G | ENSP00000473355.2:p.Glu1904= | |
| ENST00000505350.2:c.*5664A>G | ENSP00000481752.1:n.*5664A>G | |
| ENST00000507379.6:c.5604A>G | ENSP00000423224.2:p.Glu1868= | |
| ENST00000509732.6:c.5658A>G | ENSP00000426541.2:p.Glu1886= | |
| ENST00000512211.7:c.5658A>G | ENSP00000423828.3:p.Glu1886= | |
| ENST00000257430.9:c.5658A>G MANE Select | ENSP00000257430.4:p.Glu1886= | |
| ENST00000257430.8:c.5658A>G | ENSP00000257430.4:p.Glu1886= | |
| ENST00000508376.6:c.5658A>G | ENSP00000427089.2:p.Glu1886= | |
| ENST00000508624.5:c.*4980A>G | ENSP00000424265.1:n.*4980A>G | |
| ENST00000520401.1:c.230+12280A>G | ||
| NM_000038.5:c.5658A>G | NP_000029.2:p.Glu1886= | |
| NM_001127510.2:c.5658A>G | NP_001120982.1:p.Glu1886= | |
| NM_001127511.2:c.5604A>G | NP_001120983.2:p.Glu1868= | |
| NM_001354895.1:c.5658A>G | NP_001341824.1:p.Glu1886= | |
| NM_001354896.1:c.5712A>G | NP_001341825.1:p.Glu1904= | |
| NM_001354897.1:c.5688A>G | NP_001341826.1:p.Glu1896= | |
| NM_001354898.1:c.5583A>G | NP_001341827.1:p.Glu1861= | |
| NM_001354899.1:c.5574A>G | NP_001341828.1:p.Glu1858= | |
| NM_001354900.1:c.5535A>G | NP_001341829.1:p.Glu1845= | |
| NM_001354901.1:c.5481A>G | NP_001341830.1:p.Glu1827= | |
| NM_001354902.1:c.5385A>G | NP_001341831.1:p.Glu1795= | |
| NM_001354903.1:c.5355A>G | NP_001341832.1:p.Glu1785= | |
| NM_001354904.1:c.5280A>G | NP_001341833.1:p.Glu1760= | |
| NM_001354905.1:c.5178A>G | NP_001341834.1:p.Glu1726= | |
| NM_001354906.1:c.4809A>G | NP_001341835.1:p.Glu1603= | |
| NM_000038.6:c.5658A>G MANE Select | NP_000029.2:p.Glu1886= | |
| NM_001127510.3:c.5658A>G | NP_001120982.1:p.Glu1886= | |
| NM_001127511.3:c.5604A>G | NP_001120983.2:p.Glu1868= | |
| NM_001354895.2:c.5658A>G | NP_001341824.1:p.Glu1886= | |
| NM_001354896.2:c.5712A>G | NP_001341825.1:p.Glu1904= | |
| NM_001354897.2:c.5688A>G | NP_001341826.1:p.Glu1896= | |
| NM_001354898.2:c.5583A>G | NP_001341827.1:p.Glu1861= | |
| NM_001354899.2:c.5574A>G | NP_001341828.1:p.Glu1858= | |
| NM_001354900.2:c.5535A>G | NP_001341829.1:p.Glu1845= | |
| NM_001354901.2:c.5481A>G | NP_001341830.1:p.Glu1827= | |
| NM_001354902.2:c.5385A>G | NP_001341831.1:p.Glu1795= | |
| NM_001354903.2:c.5355A>G | NP_001341832.1:p.Glu1785= | |
| NM_001354904.2:c.5280A>G | NP_001341833.1:p.Glu1760= | |
| NM_001354905.2:c.5178A>G | NP_001341834.1:p.Glu1726= | |
| NM_001354906.2:c.4809A>G | NP_001341835.1:p.Glu1603= |