Linked Data
ClinVar Variation Id:
971798
ClinVar RCV Id:
RCV001247667
dbSNP Id:
rs761494287
ExAC:
2:99012357 C / G
gnomAD v2:
2-99012357-C-G
gnomAD v4:
2-98395894-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98395894C>G , CM000664.2:g.98395894C>G | GRCh38 |
| NC_000002.11:g.99012357C>G , CM000664.1:g.99012357C>G | GRCh37 |
| NC_000002.10:g.98378789C>G | NCBI36 |
| NG_009097.1:g.54740C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.724C>G MANE Select | ENSP00000272602.2:p.His242Asp | |
| ENST00000272602.6:c.724C>G | ENSP00000272602.2:p.His242Asp | |
| ENST00000393504.5:c.724C>G | ENSP00000377140.1:p.His242Asp | |
| ENST00000409937.1:c.736C>G | ENSP00000386761.1:p.His246Asp | |
| ENST00000436404.6:c.670C>G | ENSP00000410070.2:p.His224Asp | |
| NM_001079878.1:c.670C>G | NP_001073347.1:p.His224Asp | |
| NM_001298.2:c.724C>G | NP_001289.1:p.His242Asp | |
| XM_006712243.2:c.835C>G | XP_006712306.1:p.His279Asp | |
| XM_011510554.1:c.889C>G | XP_011508856.1:p.His297Asp | |
| XM_011510554.2:c.889C>G | XP_011508856.1:p.His297Asp | |
| NM_001079878.2:c.670C>G | NP_001073347.1:p.His224Asp | |
| NM_001298.3:c.724C>G MANE Select | NP_001289.1:p.His242Asp |