Linked Data
ClinVar Variation Id:
713669
ClinVar RCV Id:
RCV000885845
dbSNP Id:
rs147737574
ExAC:
17:4714225 G / A
gnomAD v2:
17-4714225-G-A
gnomAD v3:
17-4810930-G-A
gnomAD v4:
17-4810930-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4810930G>A , CM000679.2:g.4810930G>A | GRCh38 |
| NC_000017.10:g.4714225G>A , CM000679.1:g.4714225G>A | GRCh37 |
| NC_000017.9:g.4661193G>A | NCBI36 |
| NG_029608.1:g.8830G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263088.11:c.989G>A MANE Select | ENSP00000263088.5:p.Arg330Gln | |
| ENST00000263088.10:c.989G>A | ENSP00000263088.5:p.Arg330Gln | |
| ENST00000572940.5:c.989G>A | ENSP00000459571.1:p.Arg330Gln | |
| ENST00000575246.6:c.*637G>A | ENSP00000459304.1:n.*637G>A | |
| ENST00000575813.5:c.124G>A | ||
| NM_001243108.1:c.989G>A | NP_001230037.1:p.Arg330Gln | |
| NM_002663.4:c.989G>A | NP_002654.3:p.Arg330Gln | |
| XM_005256695.2:c.989G>A | XP_005256752.1:p.Arg330Gln | |
| XM_005256696.2:c.-218G>A | XP_005256753.1:n.-218G>A | |
| XM_011523941.1:c.989G>A | XP_011522243.1:p.Arg330Gln | |
| XM_011523942.1:c.989G>A | XP_011522244.1:p.Arg330Gln | |
| XM_017024764.2:c.-218G>A | XP_016880253.1:n.-218G>A | |
| XR_001752533.2:n.1051G>A | ||
| XR_001752534.2:n.1051G>A | ||
| XR_001752535.2:n.1051G>A | ||
| XR_001752536.2:n.1051G>A | ||
| XR_001752537.2:n.1051G>A | ||
| XR_002958023.1:n.1051G>A | ||
| XR_002958024.1:n.1051G>A | ||
| NM_002663.5:c.989G>A MANE Select | NP_002654.3:p.Arg330Gln | |
| NM_001243108.2:c.989G>A | NP_001230037.1:p.Arg330Gln |