Linked Data
ClinVar Variation Id:
416084
dbSNP Id:
rs61755909
ExAC:
7:819695 A / G
gnomAD v2:
7-819695-A-G
gnomAD v3:
7-780058-A-G
gnomAD v4:
7-780058-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.780058A>G , CM000669.2:g.780058A>G | GRCh38 |
| NC_000007.13:g.819695A>G , CM000669.1:g.819695A>G | GRCh37 |
| NC_000007.12:g.786221A>G | NCBI36 |
| NG_033137.1:g.58358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.2345A>G MANE Select | ENSP00000297440.6:p.Tyr782Cys | |
| ENST00000297440.10:c.2345A>G | ENSP00000297440.6:p.Tyr782Cys | |
| ENST00000403952.3:c.620A>G | ENSP00000384884.3:p.Tyr207Cys | |
| ENST00000440747.5:c.1749A>G | ||
| ENST00000461576.1:n.155A>G | ||
| NM_017802.3:c.2345A>G | NP_060272.3:p.Tyr782Cys | |
| NR_075098.1:n.2303A>G | ||
| XM_024446813.1:c.2239+4896A>G | XP_024302581.1:n.2239+4896A>G | |
| XM_024446814.1:c.1739A>G | XP_024302582.1:p.Tyr580Cys | |
| NM_017802.4:c.2345A>G MANE Select | NP_060272.3:p.Tyr782Cys | |
| NR_075098.2:n.2305A>G |