Linked Data
ClinVar Variation Id:
1949890
ClinVar RCV Id:
RCV002659574
dbSNP Id:
rs2039284812
gnomAD v3:
19-41414129-C-A
gnomAD v4:
19-41414129-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414129C>A , CM000681.2:g.41414129C>A | GRCh38 |
| NC_000019.9:g.41920034C>A , CM000681.1:g.41920034C>A | GRCh37 |
| NC_000019.8:g.46611874C>A | NCBI36 |
| NG_013004.1:g.21341C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.456C>A MANE Select | ENSP00000269980.2:p.Asp152Glu | |
| ENST00000269980.6:c.456C>A | ENSP00000269980.2:p.Asp152Glu | |
| ENST00000457836.6:c.390C>A | ENSP00000416000.2:p.Asp130Glu | |
| ENST00000538423.5:n.582C>A | ||
| ENST00000540732.3:c.558C>A | ENSP00000443246.1:p.Asp186Glu | |
| ENST00000541315.1:c.263C>A | ||
| ENST00000542943.5:c.369C>A | ENSP00000440345.1:p.Asp123Glu | |
| ENST00000595085.5:c.456C>A | ENSP00000471150.2:p.Asp152Glu | |
| NM_000709.3:c.456C>A | NP_000700.1:p.Asp152Glu | |
| NM_001164783.1:c.456C>A | NP_001158255.1:p.Asp152Glu | |
| NM_000709.4:c.456C>A MANE Select | NP_000700.1:p.Asp152Glu | |
| NM_001164783.2:c.456C>A | NP_001158255.1:p.Asp152Glu |