Linked Data
ClinVar Variation Id:
159712
dbSNP Id:
rs138410893
ExAC:
17:16220036 G / A
gnomAD v2:
17-16220036-G-A
gnomAD v3:
17-16316722-G-A
gnomAD v4:
17-16316722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16316722G>A , CM000679.2:g.16316722G>A | GRCh38 |
| NC_000017.10:g.16220036G>A , CM000679.1:g.16220036G>A | GRCh37 |
| NC_000017.9:g.16160761G>A | NCBI36 |
| NG_032651.1:g.104528G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.526+10G>A MANE Select | ENSP00000225609.5:n.526+10G>A | |
| ENST00000225609.9:c.526+10G>A | ENSP00000225609.5:n.526+10G>A | |
| ENST00000395844.8:c.495-1053G>A | ENSP00000379185.3:n.495-1053G>A | |
| ENST00000477745.5:n.524+10G>A | ||
| ENST00000498772.6:n.553G>A | ||
| ENST00000580201.1:n.507-1053G>A | ||
| ENST00000581006.5:c.426+16744G>A | ENSP00000462432.1:n.426+16744G>A | |
| ENST00000584797.5:c.526+10G>A | ENSP00000463540.1:n.526+10G>A | |
| ENST00000585034.5:c.*130G>A | ENSP00000464424.1:n.*130G>A | |
| ENST00000596678.2:c.69-1053G>A | ENSP00000470064.2:n.69-1053G>A | |
| ENST00000613719.1:n.21G>A | ||
| NM_004278.3:c.526+10G>A | NP_004269.1:n.526+10G>A | |
| XR_243571.2:n.544+10G>A | ||
| XR_429826.2:n.544+10G>A | ||
| XM_017025349.1:c.526+10G>A | XP_016880838.1:n.526+10G>A | |
| XM_017025350.1:c.526+10G>A | XP_016880839.1:n.526+10G>A | |
| XM_017025351.1:c.526+10G>A | XP_016880840.1:n.526+10G>A | |
| XM_017025352.1:c.526+10G>A | XP_016880841.1:n.526+10G>A | |
| XM_017025353.1:c.526+10G>A | XP_016880842.1:n.526+10G>A | |
| XM_017025354.1:c.495-1053G>A | XP_016880843.1:n.495-1053G>A | |
| XM_017025355.1:c.495-1053G>A | XP_016880844.1:n.495-1053G>A | |
| XM_017025356.1:c.536G>A | XP_016880845.1:p.Cys179Tyr | |
| NM_004278.4:c.526+10G>A MANE Select | NP_004269.1:n.526+10G>A |