Linked Data
dbSNP Id:
rs773337848
ExAC:
17:15930963 C / G
gnomAD v2:
17-15930963-C-G
gnomAD v4:
17-16027649-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027649C>G , CM000679.2:g.16027649C>G | GRCh38 |
| NC_000017.10:g.15930963C>G , CM000679.1:g.15930963C>G | GRCh37 |
| NC_000017.9:g.15871688C>G | NCBI36 |
| NG_029806.1:g.33270C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*127C>G MANE Select | ENSP00000261647.5:n.*127C>G | |
| ENST00000261647.9:c.*127C>G | ENSP00000261647.5:n.*127C>G | |
| ENST00000465567.1:n.1664C>G | ||
| ENST00000470649.1:c.247+947C>G | ENSP00000465627.1:n.247+947C>G | |
| ENST00000475723.5:c.1454C>G | ||
| ENST00000481107.1:n.1938C>G | ||
| NM_001271420.1:c.*127C>G | NP_001258349.1:n.*127C>G | |
| NM_017775.3:c.*127C>G | NP_060245.3:n.*127C>G | |
| XM_017024801.2:c.994+947C>G | XP_016880290.2:n.994+947C>G | |
| XM_017024802.2:c.994+947C>G | XP_016880291.2:n.994+947C>G | |
| NM_017775.4:c.*127C>G MANE Select | NP_060245.3:n.*127C>G | |
| NM_001271420.2:c.*127C>G | NP_001258349.1:n.*127C>G |