Linked Data
ClinVar Variation Id:
392887
ClinVar RCV Id:
RCV000431974
dbSNP Id:
rs1057524681
gnomAD v2:
2-217341852-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216477129C>A , CM000664.2:g.216477129C>A | GRCh38 |
| NC_000002.11:g.217341852C>A , CM000664.1:g.217341852C>A | GRCh37 |
| NC_000002.10:g.217050097C>A | NCBI36 |
| NG_009771.1:g.69716C>A , LRG_108:g.69716C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425815.6:c.2448C>A | ENSP00000394410.2:p.Asp816Glu | |
| ENST00000430374.6:c.2448C>A | ENSP00000405077.2:p.Asp816Glu | |
| ENST00000444508.6:c.2448C>A | ENSP00000398969.2:p.Asp816Glu | |
| ENST00000697899.1:c.2214C>A | ENSP00000513470.1:p.Asp738Glu | |
| ENST00000697901.1:c.*1203C>A | ENSP00000513471.1:n.*1203C>A | |
| ENST00000697903.1:c.*935C>A | ENSP00000513472.1:n.*935C>A | |
| ENST00000697904.1:c.*935C>A | ENSP00000513473.1:n.*935C>A | |
| ENST00000697905.1:c.*935C>A | ENSP00000513474.1:n.*935C>A | |
| ENST00000697906.1:c.2214C>A | ENSP00000513475.1:p.Asp738Glu | |
| ENST00000697907.1:c.*1306C>A | ENSP00000513476.1:n.*1306C>A | |
| ENST00000697908.1:n.2142C>A | ||
| ENST00000697909.1:n.1340C>A | ||
| ENST00000697910.1:n.845C>A | ||
| ENST00000697911.1:n.754C>A | ||
| ENST00000357276.9:c.2448C>A MANE Select | ENSP00000349823.4:p.Asp816Glu | |
| ENST00000357276.8:c.2448C>A | ENSP00000349823.4:p.Asp816Glu | |
| ENST00000358207.9:c.2448C>A | ENSP00000350940.5:p.Asp816Glu | |
| ENST00000392128.6:c.1974C>A | ENSP00000375974.2:p.Asp658Glu | |
| NM_001127207.1:c.2448C>A | NP_001120679.1:p.Asp816Glu | |
| NM_014140.3:c.2448C>A , LRG_108t1:c.2448C>A | NP_054859.2:p.Asp816Glu | |
| XM_005246631.2:c.2448C>A | XP_005246688.1:p.Asp816Glu | |
| XM_005246632.1:c.2448C>A | XP_005246689.1:p.Asp816Glu | |
| XM_006712557.1:c.2382C>A | XP_006712620.1:p.Asp794Glu | |
| XM_005246632.2:c.2448C>A | XP_005246689.1:p.Asp816Glu | |
| XM_017004228.2:c.1536C>A | XP_016859717.1:p.Asp512Glu | |
| NM_001127207.2:c.2448C>A | NP_001120679.1:p.Asp816Glu | |
| NM_014140.4:c.2448C>A MANE Select | NP_054859.2:p.Asp816Glu |