Linked Data
ClinVar Variation Id:
300787
dbSNP Id:
rs139371702
ExAC:
10:75849891 T / A
gnomAD v2:
10-75849891-T-A
gnomAD v3:
10-74090133-T-A
gnomAD v4:
10-74090133-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74090133T>A , CM000672.2:g.74090133T>A | GRCh38 |
| NC_000010.10:g.75849891T>A , CM000672.1:g.75849891T>A | GRCh37 |
| NC_000010.9:g.75519897T>A | NCBI36 |
| NG_008868.1:g.97020T>A , LRG_383:g.97020T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.1287T>A MANE Select | ENSP00000211998.5:p.Asp429Glu | |
| ENST00000211998.8:c.1287T>A | ENSP00000211998.4:p.Asp429Glu | |
| ENST00000372755.7:c.1287T>A | ENSP00000361841.3:p.Asp429Glu | |
| ENST00000436396.1:c.303T>A | ENSP00000415489.1:p.Asp101Glu | |
| ENST00000478896.2:n.332-10921T>A | ||
| ENST00000623461.3:n.4090T>A | ||
| ENST00000624354.3:c.*1042T>A | ENSP00000485551.1:n.*1042T>A | |
| NM_003373.3:c.1287T>A | NP_003364.1:p.Asp429Glu | |
| NM_014000.2:c.1287T>A , LRG_383t1:c.1287T>A | NP_054706.1:p.Asp429Glu | |
| XM_005270142.1:c.1290T>A | XP_005270199.1:p.Asp430Glu | |
| XM_005270143.1:c.1290T>A | XP_005270200.1:p.Asp430Glu | |
| NM_003373.4:c.1287T>A | NP_003364.1:p.Asp429Glu | |
| NM_014000.3:c.1287T>A MANE Select | NP_054706.1:p.Asp429Glu |