Linked Data
ClinVar Variation Id:
2693838
ClinVar RCV Id:
RCV003543865
dbSNP Id:
rs144182897
gnomAD v2:
1-203669437-C-G
gnomAD v4:
1-203700309-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203700309C>G , CM000663.2:g.203700309C>G | GRCh38 |
| NC_000001.10:g.203669437C>G , CM000663.1:g.203669437C>G | GRCh37 |
| NC_000001.9:g.201936060C>G | NCBI36 |
| NG_029589.1:g.78523C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.753C>G | ENSP00000340930.2:p.Asp251Glu | |
| ENST00000705901.1:c.753C>G | ENSP00000516177.1:p.Asp251Glu | |
| ENST00000357681.10:c.753C>G MANE Select | ENSP00000350310.5:p.Asp251Glu | |
| ENST00000341360.6:c.753C>G | ENSP00000340930.2:p.Asp251Glu | |
| ENST00000357681.9:c.753C>G | ENSP00000350310.5:p.Asp251Glu | |
| ENST00000367218.7:c.753C>G | ENSP00000356187.3:p.Asp251Glu | |
| NM_001001396.2:c.753C>G | NP_001001396.1:p.Asp251Glu | |
| NM_001684.4:c.753C>G | NP_001675.3:p.Asp251Glu | |
| NM_001365783.1:c.753C>G | NP_001352712.1:p.Asp251Glu | |
| NM_001365784.1:c.753C>G | NP_001352713.1:p.Asp251Glu | |
| NM_001365783.2:c.753C>G | NP_001352712.1:p.Asp251Glu | |
| NM_001684.5:c.753C>G MANE Select | NP_001675.3:p.Asp251Glu | |
| NM_001001396.3:c.753C>G | NP_001001396.1:p.Asp251Glu | |
| NM_001365784.2:c.753C>G | NP_001352713.1:p.Asp251Glu |