Linked Data
dbSNP Id:
rs759829716
ExAC:
17:16221252 A / G
gnomAD v2:
17-16221252-A-G
gnomAD v4:
17-16317938-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317938A>G , CM000679.2:g.16317938A>G | GRCh38 |
| NC_000017.10:g.16221252A>G , CM000679.1:g.16221252A>G | GRCh37 |
| NC_000017.9:g.16161977A>G | NCBI36 |
| NG_032651.1:g.105744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.660+30A>G MANE Select | ENSP00000225609.5:n.660+30A>G | |
| ENST00000225609.9:c.660+30A>G | ENSP00000225609.5:n.660+30A>G | |
| ENST00000395844.8:c.628+30A>G | ENSP00000379185.3:n.628+30A>G | |
| ENST00000477745.5:n.658+30A>G | ||
| ENST00000488375.2:n.518+30A>G | ||
| ENST00000581006.5:c.426+17960A>G | ENSP00000462432.1:n.426+17960A>G | |
| ENST00000596678.2:c.202+30A>G | ENSP00000470064.2:n.202+30A>G | |
| ENST00000613719.1:n.987+250A>G | ||
| NM_004278.3:c.660+30A>G | NP_004269.1:n.660+30A>G | |
| XR_243571.2:n.1658+30A>G | ||
| XM_017025349.1:c.*824+30A>G | XP_016880838.1:n.*824+30A>G | |
| XM_017025350.1:c.*824+30A>G | XP_016880839.1:n.*824+30A>G | |
| XM_017025352.1:c.660+30A>G | XP_016880841.1:n.660+30A>G | |
| XM_017025353.1:c.660+30A>G | XP_016880842.1:n.660+30A>G | |
| XM_017025354.1:c.628+30A>G | XP_016880843.1:n.628+30A>G | |
| XM_017025355.1:c.628+30A>G | XP_016880844.1:n.628+30A>G | |
| XM_017025356.1:c.*1137+30A>G | XP_016880845.1:n.*1137+30A>G | |
| NM_004278.4:c.660+30A>G MANE Select | NP_004269.1:n.660+30A>G |