Linked Data
ClinVar Variation Id:
377917
dbSNP Id:
rs200639270
gnomAD v3:
19-12893543-G-A
gnomAD v4:
19-12893543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893543G>A , CM000681.2:g.12893543G>A | GRCh38 |
| NC_000019.9:g.13004357G>A , CM000681.1:g.13004357G>A | GRCh37 |
| NC_000019.8:g.12865357G>A | NCBI36 |
| NG_009292.1:g.7384G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222214.10:c.395G>A MANE Select | ENSP00000222214.4:p.Arg132Gln | |
| ENST00000222214.9:c.395G>A | ENSP00000222214.4:p.Arg132Gln | |
| ENST00000421816.6:n.373G>A | ||
| ENST00000585420.5:n.760G>A | ||
| ENST00000587832.5:n.452G>A | ||
| ENST00000588905.5:c.359G>A | ENSP00000465770.1:p.Arg120Gln | |
| ENST00000589039.5:c.332G>A | ENSP00000465618.1:p.Arg111Gln | |
| ENST00000590530.5:c.450G>A | ENSP00000468452.1:p.Ala150= | |
| ENST00000590627.5:n.760G>A | ||
| ENST00000591043.1:n.431G>A | ||
| ENST00000591470.5:c.395G>A | ENSP00000466845.1:p.Arg132Gln | |
| NM_000159.3:c.395G>A | NP_000150.1:p.Arg132Gln | |
| NM_013976.3:c.395G>A | NP_039663.1:p.Arg132Gln | |
| NR_102316.1:n.558G>A | ||
| NR_102317.1:n.811G>A | ||
| XM_006722721.2:c.395G>A | XP_006722784.1:p.Arg132Gln | |
| XM_011527899.1:c.395G>A | XP_011526201.1:p.Arg132Gln | |
| XM_011527900.1:c.395G>A | XP_011526202.1:p.Arg132Gln | |
| XM_011527899.2:c.395G>A | XP_011526201.1:p.Arg132Gln | |
| XM_011527900.2:c.395G>A | XP_011526202.1:p.Arg132Gln | |
| XM_017026580.1:c.395G>A | XP_016882069.1:p.Arg132Gln | |
| NM_000159.4:c.395G>A MANE Select | NP_000150.1:p.Arg132Gln | |
| NM_013976.4:c.395G>A | NP_039663.1:p.Arg132Gln | |
| NM_013976.5:c.395G>A | NP_039663.1:p.Arg132Gln |