Linked Data
ClinVar Variation Id:
186647
dbSNP Id:
rs79015778
gnomAD v2:
5-112170812-T-C
gnomAD v4:
5-112835115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835115T>C , CM000667.2:g.112835115T>C | GRCh38 |
| NC_000005.9:g.112170812T>C , CM000667.1:g.112170812T>C | GRCh37 |
| NC_000005.8:g.112198711T>C | NCBI36 |
| NG_008481.4:g.147595T>C , LRG_130:g.147595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1573T>C | ENSP00000484935.2:n.1573T>C | |
| ENST00000504915.3:c.1962T>C | ENSP00000473355.2:p.Gly654= | |
| ENST00000505350.2:c.*1914T>C | ENSP00000481752.1:n.*1914T>C | |
| ENST00000507379.6:c.1854T>C | ENSP00000423224.2:p.Gly618= | |
| ENST00000509732.6:c.1908T>C | ENSP00000426541.2:p.Gly636= | |
| ENST00000512211.7:c.1908T>C | ENSP00000423828.3:p.Gly636= | |
| ENST00000257430.9:c.1908T>C MANE Select | ENSP00000257430.4:p.Gly636= | |
| ENST00000257430.8:c.1908T>C | ENSP00000257430.4:p.Gly636= | |
| ENST00000502371.2:c.261T>C | ||
| ENST00000504915.2:c.597T>C | ENSP00000473355.1:p.Gly199= | |
| ENST00000507379.5:c.1854T>C | ENSP00000423224.1:p.Gly618= | |
| ENST00000508376.6:c.1908T>C | ENSP00000427089.2:p.Gly636= | |
| ENST00000508624.5:c.*1230T>C | ENSP00000424265.1:n.*1230T>C | |
| ENST00000512211.6:c.1908T>C | ENSP00000423828.2:p.Gly636= | |
| ENST00000520401.1:c.230+6143T>C | ||
| NM_000038.5:c.1908T>C | NP_000029.2:p.Gly636= | |
| NM_001127510.2:c.1908T>C | NP_001120982.1:p.Gly636= | |
| NM_001127511.2:c.1854T>C | NP_001120983.2:p.Gly618= | |
| NM_001354895.1:c.1908T>C | NP_001341824.1:p.Gly636= | |
| NM_001354896.1:c.1962T>C | NP_001341825.1:p.Gly654= | |
| NM_001354897.1:c.1938T>C | NP_001341826.1:p.Gly646= | |
| NM_001354898.1:c.1833T>C | NP_001341827.1:p.Gly611= | |
| NM_001354899.1:c.1824T>C | NP_001341828.1:p.Gly608= | |
| NM_001354900.1:c.1785T>C | NP_001341829.1:p.Gly595= | |
| NM_001354901.1:c.1731T>C | NP_001341830.1:p.Gly577= | |
| NM_001354902.1:c.1635T>C | NP_001341831.1:p.Gly545= | |
| NM_001354903.1:c.1605T>C | NP_001341832.1:p.Gly535= | |
| NM_001354904.1:c.1530T>C | NP_001341833.1:p.Gly510= | |
| NM_001354905.1:c.1428T>C | NP_001341834.1:p.Gly476= | |
| NM_001354906.1:c.1059T>C | NP_001341835.1:p.Gly353= | |
| NM_000038.6:c.1908T>C MANE Select | NP_000029.2:p.Gly636= | |
| NM_001127510.3:c.1908T>C | NP_001120982.1:p.Gly636= | |
| NM_001127511.3:c.1854T>C | NP_001120983.2:p.Gly618= | |
| NM_001354895.2:c.1908T>C | NP_001341824.1:p.Gly636= | |
| NM_001354896.2:c.1962T>C | NP_001341825.1:p.Gly654= | |
| NM_001354897.2:c.1938T>C | NP_001341826.1:p.Gly646= | |
| NM_001354898.2:c.1833T>C | NP_001341827.1:p.Gly611= | |
| NM_001354899.2:c.1824T>C | NP_001341828.1:p.Gly608= | |
| NM_001354900.2:c.1785T>C | NP_001341829.1:p.Gly595= | |
| NM_001354901.2:c.1731T>C | NP_001341830.1:p.Gly577= | |
| NM_001354902.2:c.1635T>C | NP_001341831.1:p.Gly545= | |
| NM_001354903.2:c.1605T>C | NP_001341832.1:p.Gly535= | |
| NM_001354904.2:c.1530T>C | NP_001341833.1:p.Gly510= | |
| NM_001354905.2:c.1428T>C | NP_001341834.1:p.Gly476= | |
| NM_001354906.2:c.1059T>C | NP_001341835.1:p.Gly353= |