Linked Data
ClinVar Variation Id:
2042018
ClinVar RCV Id:
RCV002917160
dbSNP Id:
rs144448122
ExAC:
5:131007425 G / C
gnomAD v2:
5-131007425-G-C
gnomAD v3:
5-131671732-G-C
gnomAD v4:
5-131671732-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131671732G>C , CM000667.2:g.131671732G>C | GRCh38 |
| NC_000005.9:g.131007425G>C , CM000667.1:g.131007425G>C | GRCh37 |
| NC_000005.8:g.131035324G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510461.6:c.2712C>G MANE Select | ENSP00000421985.1:p.Asp904Glu | |
| ENST00000307954.12:c.2577C>G | ENSP00000310453.8:p.Asp859Glu | |
| ENST00000307968.11:c.2628C>G | ENSP00000309266.7:p.Asp876Glu | |
| ENST00000510461.5:c.2712C>G | ENSP00000421985.1:p.Asp904Glu | |
| ENST00000514667.1:c.220-67039C>G | ENSP00000426948.1:n.220-67039C>G | |
| ENST00000615660.4:c.1968C>G | ENSP00000480650.1:p.Asp656Glu | |
| NM_001008738.2:c.2628C>G | NP_001008738.2:p.Asp876Glu | |
| NM_133372.2:c.2712C>G | NP_588613.2:p.Asp904Glu | |
| NM_001346114.1:c.2577C>G | NP_001333043.1:p.Asp859Glu | |
| NM_133372.3:c.2712C>G MANE Select | NP_588613.3:p.Asp904Glu | |
| NM_001008738.3:c.2628C>G | NP_001008738.3:p.Asp876Glu | |
| NM_001346114.2:c.2577C>G | NP_001333043.1:p.Asp859Glu |