Linked Data
ClinVar Variation Id:
2774838
dbSNP Id:
rs786201618
gnomAD v2:
17-41234551-C-G
gnomAD v4:
17-43082534-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082534C>G , CM000679.2:g.43082534C>G | GRCh38 |
| NC_000017.10:g.41234551C>G , CM000679.1:g.41234551C>G | GRCh37 |
| NC_000017.9:g.38488077C>G | NCBI36 |
| NG_005905.2:g.135450G>C , LRG_292:g.135450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4227G>C | ENSP00000417241.2:p.Gln1409His | |
| ENST00000470026.6:c.4227G>C | ENSP00000419274.2:p.Gln1409His | |
| ENST00000473961.6:c.4101G>C | ENSP00000420201.2:p.Gln1367His | |
| ENST00000476777.6:c.4221G>C | ENSP00000417554.2:p.Gln1407His | |
| ENST00000477152.6:c.4149G>C | ENSP00000419988.2:p.Gln1383His | |
| ENST00000478531.6:c.915G>C | ENSP00000420412.2:p.Gln305His | |
| ENST00000489037.2:c.4149G>C | ENSP00000420781.2:p.Gln1383His | |
| ENST00000493919.6:c.777G>C | ENSP00000418819.2:p.Gln259His | |
| ENST00000494123.6:c.4227G>C | ENSP00000419103.2:p.Gln1409His | |
| ENST00000497488.2:c.3339G>C | ENSP00000418986.2:p.Gln1113His | |
| ENST00000618469.2:c.4227G>C | ENSP00000478114.2:p.Gln1409His | |
| ENST00000634433.2:c.4104G>C | ENSP00000489431.2:p.Gln1368His | |
| ENST00000644379.2:c.4227G>C | ENSP00000496570.2:p.Gln1409His | |
| ENST00000644555.2:c.777G>C | ENSP00000494614.2:p.Gln259His | |
| ENST00000652672.2:c.4086G>C | ENSP00000498906.2:p.Gln1362His | |
| ENST00000484087.6:c.792G>C | ENSP00000419481.2:p.Gln264His | |
| ENST00000700182.1:c.837G>C | ENSP00000514849.1:p.Gln279His | |
| ENST00000357654.9:c.4227G>C MANE Select | ENSP00000350283.3:p.Gln1409His | |
| ENST00000471181.7:c.4227G>C | ENSP00000418960.2:p.Gln1409His | |
| ENST00000644379.1:c.548G>C | ||
| ENST00000352993.7:c.801G>C | ENSP00000312236.5:p.Gln267His | |
| ENST00000357654.7:c.4227G>C | ENSP00000350283.3:p.Gln1409His | |
| ENST00000461221.5:c.*4010G>C | ENSP00000418548.1:n.*4010G>C | |
| ENST00000461574.1:c.521G>C | ||
| ENST00000468300.5:c.918G>C | ENSP00000417148.1:p.Gln306His | |
| ENST00000471181.6:c.4227G>C | ENSP00000418960.2:p.Gln1409His | |
| ENST00000478531.5:c.915G>C | ENSP00000420412.1:p.Gln305His | |
| ENST00000484087.5:c.540G>C | ENSP00000419481.1:p.Gln180His | |
| ENST00000487825.5:c.543G>C | ENSP00000418212.1:p.Gln181His | |
| ENST00000491747.6:c.918G>C | ENSP00000420705.2:p.Gln306His | |
| ENST00000493795.5:c.4086G>C | ENSP00000418775.1:p.Gln1362His | |
| ENST00000493919.5:c.777G>C | ENSP00000418819.1:p.Gln259His | |
| ENST00000586385.5:c.5-18583G>C | ENSP00000465818.1:n.5-18583G>C | |
| ENST00000591534.5:c.-43-8013G>C | ENSP00000467329.1:n.-43-8013G>C | |
| ENST00000591849.5:c.-98-32344G>C | ENSP00000465347.1:n.-98-32344G>C | |
| ENST00000621897.1:n.121G>C | ||
| NM_007294.3:c.4227G>C , LRG_292t1:c.4227G>C | NP_009225.1:p.Gln1409His | |
| NM_007297.3:c.4086G>C | NP_009228.2:p.Gln1362His | |
| NM_007298.3:c.918G>C | NP_009229.2:p.Gln306His | |
| NM_007299.3:c.918G>C | NP_009230.2:p.Gln306His | |
| NM_007300.3:c.4227G>C | NP_009231.2:p.Gln1409His | |
| NR_027676.1:n.4363G>C | ||
| NM_007294.4:c.4227G>C MANE Select | NP_009225.1:p.Gln1409His | |
| NM_007297.4:c.4086G>C | NP_009228.2:p.Gln1362His | |
| NM_007299.4:c.918G>C | NP_009230.2:p.Gln306His | |
| NM_007300.4:c.4227G>C | NP_009231.2:p.Gln1409His | |
| NR_027676.2:n.4404G>C |