Linked Data
ClinVar Variation Id:
1229268
ClinVar RCV Id:
RCV001609508
dbSNP Id:
rs73287023
gnomAD v2:
17-16221290-C-A
gnomAD v3:
17-16317976-C-A
gnomAD v4:
17-16317976-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317976C>A , CM000679.2:g.16317976C>A | GRCh38 |
| NC_000017.10:g.16221290C>A , CM000679.1:g.16221290C>A | GRCh37 |
| NC_000017.9:g.16162015C>A | NCBI36 |
| NG_032651.1:g.105782C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.660+68C>A MANE Select | ENSP00000225609.5:n.660+68C>A | |
| ENST00000225609.9:c.660+68C>A | ENSP00000225609.5:n.660+68C>A | |
| ENST00000395844.8:c.628+68C>A | ENSP00000379185.3:n.628+68C>A | |
| ENST00000477745.5:n.658+68C>A | ||
| ENST00000488375.2:n.518+68C>A | ||
| ENST00000581006.5:c.426+17998C>A | ENSP00000462432.1:n.426+17998C>A | |
| ENST00000596678.2:c.202+68C>A | ENSP00000470064.2:n.202+68C>A | |
| ENST00000613719.1:n.987+288C>A | ||
| NM_004278.3:c.660+68C>A | NP_004269.1:n.660+68C>A | |
| XR_243571.2:n.1658+68C>A | ||
| XM_017025349.1:c.*824+68C>A | XP_016880838.1:n.*824+68C>A | |
| XM_017025350.1:c.*824+68C>A | XP_016880839.1:n.*824+68C>A | |
| XM_017025352.1:c.660+68C>A | XP_016880841.1:n.660+68C>A | |
| XM_017025353.1:c.660+68C>A | XP_016880842.1:n.660+68C>A | |
| XM_017025354.1:c.628+68C>A | XP_016880843.1:n.628+68C>A | |
| XM_017025355.1:c.628+68C>A | XP_016880844.1:n.628+68C>A | |
| XM_017025356.1:c.*1137+68C>A | XP_016880845.1:n.*1137+68C>A | |
| NM_004278.4:c.660+68C>A MANE Select | NP_004269.1:n.660+68C>A |