Linked Data
ClinVar Variation Id:
4029
dbSNP Id:
rs28940868
ExAC:
17:78086721 C / A
gnomAD v2:
17-78086721-C-A
gnomAD v3:
17-80112922-C-A
gnomAD v4:
17-80112922-C-A
ERepo:
CA116610/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80112922C>A , CM000679.2:g.80112922C>A | GRCh38 |
| NC_000017.10:g.78086721C>A , CM000679.1:g.78086721C>A | GRCh37 |
| NC_000017.9:g.75701316C>A | NCBI36 |
| NG_009822.1:g.16367C>A , LRG_673:g.16367C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1935C>A | ENSP00000460543.2:p.Asp645Glu | |
| ENST00000572080.2:c.*73C>A | ENSP00000459972.2:n.*73C>A | |
| ENST00000577106.6:c.1935C>A | ENSP00000458306.2:p.Asp645Glu | |
| ENST00000302262.8:c.1935C>A MANE Select | ENSP00000305692.3:p.Asp645Glu | |
| ENST00000302262.7:c.1935C>A | ENSP00000305692.3:p.Asp645Glu | |
| ENST00000390015.7:c.1935C>A | ENSP00000374665.3:p.Asp645Glu | |
| ENST00000570716.1:n.375C>A | ||
| ENST00000572080.1:c.354C>A | ||
| ENST00000572803.1:n.549C>A | ||
| NM_000152.3:c.1935C>A , LRG_673t1:c.1935C>A | NP_000143.2:p.Asp645Glu | |
| NM_001079803.1:c.1935C>A | NP_001073271.1:p.Asp645Glu | |
| NM_001079804.1:c.1935C>A | NP_001073272.1:p.Asp645Glu | |
| XM_005257193.1:c.1935C>A | XP_005257250.1:p.Asp645Glu | |
| XM_005257194.3:c.1935C>A | XP_005257251.1:p.Asp645Glu | |
| NM_000152.4:c.1935C>A | NP_000143.2:p.Asp645Glu | |
| NM_001079803.2:c.1935C>A | NP_001073271.1:p.Asp645Glu | |
| NM_001079804.2:c.1935C>A | NP_001073272.1:p.Asp645Glu | |
| XM_005257193.2:c.1935C>A | XP_005257250.1:p.Asp645Glu | |
| XM_005257194.4:c.1935C>A | XP_005257251.1:p.Asp645Glu | |
| NM_000152.5:c.1935C>A MANE Select | NP_000143.2:p.Asp645Glu | |
| NM_001079803.3:c.1935C>A | NP_001073271.1:p.Asp645Glu | |
| NM_001079804.3:c.1935C>A | NP_001073272.1:p.Asp645Glu |