Linked Data
ClinVar Variation Id:
193729
dbSNP Id:
rs145750007
ExAC:
7:299872 G / A
gnomAD v2:
7-299872-G-A
gnomAD v3:
7-259906-G-A
gnomAD v4:
7-259906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.259906G>A , CM000669.2:g.259906G>A | GRCh38 |
| NC_000007.13:g.299872G>A , CM000669.1:g.299872G>A | GRCh37 |
| NG_033970.1:g.69542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1681G>A MANE Select | ENSP00000322323.5:p.Val561Met | |
| ENST00000313766.5:c.1681G>A | ENSP00000322323.5:p.Val561Met | |
| ENST00000515795.1:n.1338G>A | ||
| NM_020223.3:c.1681G>A | NP_064608.2:p.Val561Met | |
| XR_242097.3:n.1828G>A | ||
| XM_017012450.1:c.1942G>A | XP_016867939.1:p.Val648Met | |
| XM_017012451.1:c.1939G>A | XP_016867940.1:p.Val647Met | |
| XM_017012455.2:c.979G>A | XP_016867944.1:p.Val327Met | |
| NM_020223.4:c.1681G>A MANE Select | NP_064608.2:p.Val561Met |