Linked Data
ClinVar Variation Id:
1795400
ClinVar RCV Id:
RCV002437585
dbSNP Id:
rs1486307499
gnomAD v2:
11-67254650-C-A
gnomAD v4:
11-67487179-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487179C>A , CM000673.2:g.67487179C>A | GRCh38 |
| NC_000011.9:g.67254650C>A , CM000673.1:g.67254650C>A | GRCh37 |
| NC_000011.8:g.67011226C>A | NCBI36 |
| NG_008969.1:g.9146C>A , LRG_460:g.9146C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.250C>A | ||
| ENST00000528641.7:c.273C>A | ENSP00000434982.3:p.Asp91Glu | |
| ENST00000529797.2:n.203C>A | ||
| ENST00000682324.1:c.273C>A | ENSP00000508017.1:p.Asp91Glu | |
| ENST00000682659.1:c.100-2859C>A | ENSP00000507351.1:n.100-2859C>A | |
| ENST00000682699.1:c.273C>A | ENSP00000507935.1:p.Asp91Glu | |
| ENST00000683237.1:c.273C>A | ENSP00000507343.1:p.Asp91Glu | |
| ENST00000683856.1:c.96C>A | ENSP00000507979.1:p.Asp32Glu | |
| ENST00000684006.1:c.273C>A | ENSP00000507269.1:p.Asp91Glu | |
| ENST00000684657.1:c.100-2088C>A | ENSP00000507961.1:n.100-2088C>A | |
| ENST00000279146.8:c.273C>A MANE Select | ENSP00000279146.3:p.Asp91Glu | |
| ENST00000279146.7:c.273C>A | ENSP00000279146.3:p.Asp91Glu | |
| ENST00000528641.6:c.273C>A | ENSP00000434982.2:p.Asp91Glu | |
| ENST00000529797.1:n.383C>A | ||
| NM_001302959.1:c.96C>A | NP_001289888.1:p.Asp32Glu | |
| NM_001302960.1:c.273C>A | NP_001289889.1:p.Asp91Glu | |
| NM_003977.3:c.273C>A | NP_003968.3:p.Asp91Glu | |
| XM_024448761.1:c.273C>A | XP_024304529.1:p.Asp91Glu | |
| NM_003977.4:c.273C>A MANE Select | NP_003968.3:p.Asp91Glu | |
| NM_001302960.2:c.273C>A | NP_001289889.1:p.Asp91Glu | |
| NM_001302959.2:c.96C>A | NP_001289888.1:p.Asp32Glu |