Linked Data
ClinVar Variation Id:
236650
dbSNP Id:
rs878853471
gnomAD v3:
5-112843416-G-A
gnomAD v4:
5-112843416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843416G>A , CM000667.2:g.112843416G>A | GRCh38 |
| NC_000005.9:g.112179113G>A , CM000667.1:g.112179113G>A | GRCh37 |
| NC_000005.8:g.112207012G>A | NCBI36 |
| NG_008481.4:g.155896G>A , LRG_130:g.155896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7876G>A | ENSP00000473355.2:p.Ala2626Thr | |
| ENST00000505350.2:c.*7828G>A | ENSP00000481752.1:n.*7828G>A | |
| ENST00000507379.6:c.7768G>A | ENSP00000423224.2:p.Ala2590Thr | |
| ENST00000509732.6:c.7822G>A | ENSP00000426541.2:p.Ala2608Thr | |
| ENST00000512211.7:c.7822G>A | ENSP00000423828.3:p.Ala2608Thr | |
| ENST00000257430.9:c.7822G>A MANE Select | ENSP00000257430.4:p.Ala2608Thr | |
| ENST00000257430.8:c.7822G>A | ENSP00000257430.4:p.Ala2608Thr | |
| ENST00000508376.6:c.7822G>A | ENSP00000427089.2:p.Ala2608Thr | |
| ENST00000520401.1:c.231-13233G>A | ||
| NM_000038.5:c.7822G>A | NP_000029.2:p.Ala2608Thr | |
| NM_001127510.2:c.7822G>A | NP_001120982.1:p.Ala2608Thr | |
| NM_001127511.2:c.7768G>A | NP_001120983.2:p.Ala2590Thr | |
| NM_001354895.1:c.7822G>A | NP_001341824.1:p.Ala2608Thr | |
| NM_001354896.1:c.7876G>A | NP_001341825.1:p.Ala2626Thr | |
| NM_001354897.1:c.7852G>A | NP_001341826.1:p.Ala2618Thr | |
| NM_001354898.1:c.7747G>A | NP_001341827.1:p.Ala2583Thr | |
| NM_001354899.1:c.7738G>A | NP_001341828.1:p.Ala2580Thr | |
| NM_001354900.1:c.7699G>A | NP_001341829.1:p.Ala2567Thr | |
| NM_001354901.1:c.7645G>A | NP_001341830.1:p.Ala2549Thr | |
| NM_001354902.1:c.7549G>A | NP_001341831.1:p.Ala2517Thr | |
| NM_001354903.1:c.7519G>A | NP_001341832.1:p.Ala2507Thr | |
| NM_001354904.1:c.7444G>A | NP_001341833.1:p.Ala2482Thr | |
| NM_001354905.1:c.7342G>A | NP_001341834.1:p.Ala2448Thr | |
| NM_001354906.1:c.6973G>A | NP_001341835.1:p.Ala2325Thr | |
| NM_000038.6:c.7822G>A MANE Select | NP_000029.2:p.Ala2608Thr | |
| NM_001127510.3:c.7822G>A | NP_001120982.1:p.Ala2608Thr | |
| NM_001127511.3:c.7768G>A | NP_001120983.2:p.Ala2590Thr | |
| NM_001354895.2:c.7822G>A | NP_001341824.1:p.Ala2608Thr | |
| NM_001354896.2:c.7876G>A | NP_001341825.1:p.Ala2626Thr | |
| NM_001354897.2:c.7852G>A | NP_001341826.1:p.Ala2618Thr | |
| NM_001354898.2:c.7747G>A | NP_001341827.1:p.Ala2583Thr | |
| NM_001354899.2:c.7738G>A | NP_001341828.1:p.Ala2580Thr | |
| NM_001354900.2:c.7699G>A | NP_001341829.1:p.Ala2567Thr | |
| NM_001354901.2:c.7645G>A | NP_001341830.1:p.Ala2549Thr | |
| NM_001354902.2:c.7549G>A | NP_001341831.1:p.Ala2517Thr | |
| NM_001354903.2:c.7519G>A | NP_001341832.1:p.Ala2507Thr | |
| NM_001354904.2:c.7444G>A | NP_001341833.1:p.Ala2482Thr | |
| NM_001354905.2:c.7342G>A | NP_001341834.1:p.Ala2448Thr | |
| NM_001354906.2:c.6973G>A | NP_001341835.1:p.Ala2325Thr |