Linked Data
ClinVar Variation Id:
283080
dbSNP Id:
rs2066520
ExAC:
2:217293442 A / T
gnomAD v2:
2-217293442-A-T
gnomAD v3:
2-216428719-A-T
gnomAD v4:
2-216428719-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216428719A>T , CM000664.2:g.216428719A>T | GRCh38 |
| NC_000002.11:g.217293442A>T , CM000664.1:g.217293442A>T | GRCh37 |
| NC_000002.10:g.217001687A>T | NCBI36 |
| NG_009771.1:g.21306A>T , LRG_108:g.21306A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1271A>T | ENSP00000394410.2:p.Asp424Val | |
| ENST00000430374.6:c.1271A>T | ENSP00000405077.2:p.Asp424Val | |
| ENST00000444508.6:c.1271A>T | ENSP00000398969.2:p.Asp424Val | |
| ENST00000697898.1:n.1632A>T | ||
| ENST00000697899.1:c.1037A>T | ENSP00000513470.1:p.Asp346Val | |
| ENST00000697900.1:n.1547A>T | ||
| ENST00000697901.1:c.*129A>T | ENSP00000513471.1:n.*129A>T | |
| ENST00000697902.1:n.1503A>T | ||
| ENST00000697903.1:c.1271A>T | ENSP00000513472.1:p.Asp424Val | |
| ENST00000697904.1:c.1271A>T | ENSP00000513473.1:p.Asp424Val | |
| ENST00000697905.1:c.1271A>T | ENSP00000513474.1:p.Asp424Val | |
| ENST00000697906.1:c.1037A>T | ENSP00000513475.1:p.Asp346Val | |
| ENST00000697907.1:c.*129A>T | ENSP00000513476.1:n.*129A>T | |
| ENST00000697908.1:n.1068A>T | ||
| ENST00000357276.9:c.1271A>T MANE Select | ENSP00000349823.4:p.Asp424Val | |
| ENST00000357276.8:c.1271A>T | ENSP00000349823.4:p.Asp424Val | |
| ENST00000358207.9:c.1271A>T | ENSP00000350940.5:p.Asp424Val | |
| ENST00000392128.6:c.863A>T | ENSP00000375974.2:p.Asp288Val | |
| ENST00000427645.5:c.917A>T | ENSP00000392997.1:p.Asp306Val | |
| ENST00000479008.1:n.515A>T | ||
| NM_001127207.1:c.1271A>T | NP_001120679.1:p.Asp424Val | |
| NM_014140.3:c.1271A>T , LRG_108t1:c.1271A>T | NP_054859.2:p.Asp424Val | |
| XM_005246631.2:c.1271A>T | XP_005246688.1:p.Asp424Val | |
| XM_005246632.1:c.1271A>T | XP_005246689.1:p.Asp424Val | |
| XM_006712557.1:c.1271A>T | XP_006712620.1:p.Asp424Val | |
| XM_005246632.2:c.1271A>T | XP_005246689.1:p.Asp424Val | |
| XM_017004228.2:c.359A>T | XP_016859717.1:p.Asp120Val | |
| NM_001127207.2:c.1271A>T | NP_001120679.1:p.Asp424Val | |
| NM_014140.4:c.1271A>T MANE Select | NP_054859.2:p.Asp424Val |