Linked Data
ClinVar Variation Id:
340931
dbSNP Id:
rs770091394
ExAC:
22:24898171 G / A
gnomAD v2:
22-24898171-G-A
gnomAD v3:
22-24502203-G-A
gnomAD v4:
22-24502203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24502203G>A , CM000684.2:g.24502203G>A | GRCh38 |
| NC_000022.10:g.24898171G>A , CM000684.1:g.24898171G>A | GRCh37 |
| NC_000022.9:g.23228171G>A | NCBI36 |
| NG_012858.1:g.11921G>A | |
| NG_012858.2:g.11921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326010.10:c.354G>A MANE Select | ENSP00000324343.5:p.Gln118= | |
| ENST00000326010.9:c.354G>A | ENSP00000324343.5:p.Gln118= | |
| ENST00000382760.2:c.354G>A | ENSP00000372208.2:p.Gln118= | |
| ENST00000415388.5:c.*53G>A | ENSP00000400684.1:n.*53G>A | |
| NM_016327.2:c.354G>A | NP_057411.1:p.Gln118= | |
| XM_011530222.1:c.354G>A | XP_011528524.1:p.Gln118= | |
| XM_011530223.1:c.354G>A | XP_011528525.1:p.Gln118= | |
| XM_011530224.1:c.354G>A | XP_011528526.1:p.Gln118= | |
| XM_011530225.1:c.-89G>A | XP_011528527.1:n.-89G>A | |
| XR_937867.1:n.1291G>A | ||
| XM_011530222.2:c.354G>A | XP_011528524.1:p.Gln118= | |
| XM_011530223.2:c.354G>A | XP_011528525.1:p.Gln118= | |
| XM_011530224.2:c.354G>A | XP_011528526.1:p.Gln118= | |
| XM_011530225.2:c.-89G>A | XP_011528527.1:n.-89G>A | |
| XM_017028825.1:c.354G>A | XP_016884314.1:p.Gln118= | |
| XM_017028826.1:c.354G>A | XP_016884315.1:p.Gln118= | |
| XM_017028827.2:c.354G>A | XP_016884316.1:p.Gln118= | |
| XM_017028828.1:c.354G>A | XP_016884317.1:p.Gln118= | |
| XR_001755249.1:n.698G>A | ||
| XR_001755250.1:n.698G>A | ||
| XR_937867.2:n.698G>A | ||
| NM_016327.3:c.354G>A MANE Select | NP_057411.1:p.Gln118= |