Linked Data
ClinVar Variation Id:
857679
ClinVar RCV Id:
RCV001063404
dbSNP Id:
rs200621696
ExAC:
7:82997022 A / C
gnomAD v2:
7-82997022-A-C
gnomAD v3:
7-83367706-A-C
gnomAD v4:
7-83367706-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367706A>C , CM000669.2:g.83367706A>C | GRCh38 |
| NC_000007.13:g.82997022A>C , CM000669.1:g.82997022A>C | GRCh37 |
| NC_000007.12:g.82834958A>C | NCBI36 |
| NG_021242.1:g.286458T>G | |
| NG_021242.2:g.286458T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.2028T>G | ENSP00000405052.1:p.Asp676Glu | |
| ENST00000643230.2:c.2208T>G MANE Select | ENSP00000496491.1:p.Asp736Glu | |
| ENST00000643441.1:n.2193T>G | ||
| ENST00000307792.7:c.2208T>G | ENSP00000303212.3:p.Asp736Glu | |
| ENST00000427262.5:c.2028T>G | ENSP00000405052.1:p.Asp676Glu | |
| NM_001178129.1:c.2028T>G | NP_001171600.1:p.Asp676Glu | |
| NM_012431.2:c.2208T>G | NP_036563.1:p.Asp736Glu | |
| NM_012431.3:c.2208T>G MANE Select | NP_036563.1:p.Asp736Glu | |
| NM_001178129.2:c.2028T>G | NP_001171600.1:p.Asp676Glu |