Linked Data
ClinVar Variation Id:
230359
dbSNP Id:
rs876658523
gnomAD v3:
5-112843892-C-T
gnomAD v4:
5-112843892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843892C>T , CM000667.2:g.112843892C>T | GRCh38 |
| NC_000005.9:g.112179589C>T , CM000667.1:g.112179589C>T | GRCh37 |
| NC_000005.8:g.112207488C>T | NCBI36 |
| NG_008481.4:g.156372C>T , LRG_130:g.156372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8352C>T | ENSP00000473355.2:p.Ser2784= | |
| ENST00000505350.2:c.*8304C>T | ENSP00000481752.1:n.*8304C>T | |
| ENST00000507379.6:c.8244C>T | ENSP00000423224.2:p.Ser2748= | |
| ENST00000509732.6:c.8298C>T | ENSP00000426541.2:p.Ser2766= | |
| ENST00000512211.7:c.8298C>T | ENSP00000423828.3:p.Ser2766= | |
| ENST00000257430.9:c.8298C>T MANE Select | ENSP00000257430.4:p.Ser2766= | |
| ENST00000257430.8:c.8298C>T | ENSP00000257430.4:p.Ser2766= | |
| ENST00000508376.6:c.8298C>T | ENSP00000427089.2:p.Ser2766= | |
| ENST00000520401.1:c.231-12757C>T | ||
| NM_000038.5:c.8298C>T | NP_000029.2:p.Ser2766= | |
| NM_001127510.2:c.8298C>T | NP_001120982.1:p.Ser2766= | |
| NM_001127511.2:c.8244C>T | NP_001120983.2:p.Ser2748= | |
| NM_001354895.1:c.8298C>T | NP_001341824.1:p.Ser2766= | |
| NM_001354896.1:c.8352C>T | NP_001341825.1:p.Ser2784= | |
| NM_001354897.1:c.8328C>T | NP_001341826.1:p.Ser2776= | |
| NM_001354898.1:c.8223C>T | NP_001341827.1:p.Ser2741= | |
| NM_001354899.1:c.8214C>T | NP_001341828.1:p.Ser2738= | |
| NM_001354900.1:c.8175C>T | NP_001341829.1:p.Ser2725= | |
| NM_001354901.1:c.8121C>T | NP_001341830.1:p.Ser2707= | |
| NM_001354902.1:c.8025C>T | NP_001341831.1:p.Ser2675= | |
| NM_001354903.1:c.7995C>T | NP_001341832.1:p.Ser2665= | |
| NM_001354904.1:c.7920C>T | NP_001341833.1:p.Ser2640= | |
| NM_001354905.1:c.7818C>T | NP_001341834.1:p.Ser2606= | |
| NM_001354906.1:c.7449C>T | NP_001341835.1:p.Ser2483= | |
| NM_000038.6:c.8298C>T MANE Select | NP_000029.2:p.Ser2766= | |
| NM_001127510.3:c.8298C>T | NP_001120982.1:p.Ser2766= | |
| NM_001127511.3:c.8244C>T | NP_001120983.2:p.Ser2748= | |
| NM_001354895.2:c.8298C>T | NP_001341824.1:p.Ser2766= | |
| NM_001354896.2:c.8352C>T | NP_001341825.1:p.Ser2784= | |
| NM_001354897.2:c.8328C>T | NP_001341826.1:p.Ser2776= | |
| NM_001354898.2:c.8223C>T | NP_001341827.1:p.Ser2741= | |
| NM_001354899.2:c.8214C>T | NP_001341828.1:p.Ser2738= | |
| NM_001354900.2:c.8175C>T | NP_001341829.1:p.Ser2725= | |
| NM_001354901.2:c.8121C>T | NP_001341830.1:p.Ser2707= | |
| NM_001354902.2:c.8025C>T | NP_001341831.1:p.Ser2675= | |
| NM_001354903.2:c.7995C>T | NP_001341832.1:p.Ser2665= | |
| NM_001354904.2:c.7920C>T | NP_001341833.1:p.Ser2640= | |
| NM_001354905.2:c.7818C>T | NP_001341834.1:p.Ser2606= | |
| NM_001354906.2:c.7449C>T | NP_001341835.1:p.Ser2483= |