Linked Data
ClinVar Variation Id:
696738
dbSNP Id:
rs201902790
ExAC:
2:145155950 A / G
gnomAD v2:
2-145155950-A-G
gnomAD v3:
2-144398383-A-G
gnomAD v4:
2-144398383-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398383A>G , CM000664.2:g.144398383A>G | GRCh38 |
| NC_000002.11:g.145155950A>G , CM000664.1:g.145155950A>G | GRCh37 |
| NC_000002.10:g.144872420A>G | NCBI36 |
| NG_016431.1:g.127009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2653T>C | ENSP00000508434.1:n.*2653T>C | |
| ENST00000440875.6:c.2027T>C | ENSP00000475553.3:p.Met676Thr | |
| ENST00000627532.3:c.2804T>C MANE Select | ENSP00000487174.1:p.Met935Thr | |
| ENST00000636026.2:c.2804T>C | ENSP00000490776.1:p.Met935Thr | |
| ENST00000636179.1:n.2773T>C | ||
| ENST00000636413.1:c.2468T>C | ENSP00000490508.1:p.Met823Thr | |
| ENST00000636471.1:c.2879T>C | ENSP00000490317.1:p.Met960Thr | |
| ENST00000636732.2:c.*2521T>C | ENSP00000490175.1:n.*2521T>C | |
| ENST00000636820.1:n.2904T>C | ||
| ENST00000637045.1:c.2468T>C | ENSP00000490141.1:p.Met823Thr | |
| ENST00000637304.1:c.2468T>C | ENSP00000490872.1:p.Met823Thr | |
| ENST00000638007.1:c.2468T>C | ENSP00000490723.1:p.Met823Thr | |
| ENST00000638087.1:c.2468T>C | ENSP00000490673.1:p.Met823Thr | |
| ENST00000638128.1:c.2027T>C | ENSP00000490934.1:p.Met676Thr | |
| ENST00000675069.1:c.335T>C | ENSP00000502467.1:p.Met112Thr | |
| ENST00000303660.8:c.2801T>C | ENSP00000302501.4:p.Met934Thr | |
| ENST00000409487.7:c.2804T>C | ENSP00000386854.2:p.Met935Thr | |
| ENST00000419938.5:c.655+2816T>C | ENSP00000394777.2:n.655+2816T>C | |
| ENST00000440875.5:c.1168-455T>C | ENSP00000475553.2:n.1168-455T>C | |
| ENST00000539609.7:c.2732T>C | ENSP00000443792.2:p.Met911Thr | |
| ENST00000558170.6:c.2804T>C | ENSP00000454157.1:p.Met935Thr | |
| ENST00000627532.2:c.2804T>C | ENSP00000487174.1:p.Met935Thr | |
| NM_001171653.1:c.2732T>C | NP_001165124.1:p.Met911Thr | |
| NM_014795.3:c.2804T>C | NP_055610.1:p.Met935Thr | |
| XM_006712881.2:c.2804T>C | XP_006712944.1:p.Met935Thr | |
| XM_006712882.2:c.2804T>C | XP_006712945.1:p.Met935Thr | |
| XM_011512231.1:c.2795T>C | XP_011510533.1:p.Met932Thr | |
| XM_011512232.1:c.2783T>C | XP_011510534.1:p.Met928Thr | |
| NM_014795.4:c.2804T>C MANE Select | NP_055610.1:p.Met935Thr | |
| NM_001171653.2:c.2732T>C | NP_001165124.1:p.Met911Thr |