Linked Data
ClinVar Variation Id:
518779
dbSNP Id:
rs771887289
ExAC:
12:22025567 G / T
gnomAD v2:
12-22025567-G-T
gnomAD v3:
12-21872633-G-T
gnomAD v4:
12-21872633-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21872633G>T , CM000674.2:g.21872633G>T | GRCh38 |
| NC_000012.11:g.22025567G>T , CM000674.1:g.22025567G>T | GRCh37 |
| NC_000012.10:g.21916834G>T | NCBI36 |
| NG_012819.1:g.69062C>A , LRG_377:g.69062C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.2190C>A | ENSP00000261201.4:p.His730Gln | |
| ENST00000682068.1:c.2190C>A | ENSP00000507226.1:p.His730Gln | |
| ENST00000682879.1:c.*1291C>A | ENSP00000508210.1:n.*1291C>A | |
| ENST00000683105.1:c.2190C>A | ENSP00000506801.1:p.His730Gln | |
| ENST00000683676.1:c.2190C>A | ENSP00000508167.1:p.His730Gln | |
| ENST00000684084.1:c.2190C>A | ENSP00000507859.1:p.His730Gln | |
| ENST00000684543.1:n.2535C>A | ||
| ENST00000261200.9:c.2190C>A MANE Select | ENSP00000261200.4:p.His730Gln | |
| ENST00000261201.9:c.2190C>A | ENSP00000261201.4:p.His730Gln | |
| ENST00000261200.8:c.2190C>A | ENSP00000261200.4:p.His730Gln | |
| ENST00000261201.8:c.2190C>A | ENSP00000261201.4:p.His730Gln | |
| ENST00000544039.5:c.1071C>A | ENSP00000440521.1:p.His357Gln | |
| NM_005691.3:c.2190C>A | NP_005682.2:p.His730Gln | |
| NM_020297.3:c.2190C>A | NP_064693.2:p.His730Gln | |
| XM_005253284.2:c.2190C>A | XP_005253341.1:p.His730Gln | |
| XM_005253286.2:c.2190C>A | XP_005253343.1:p.His730Gln | |
| XM_005253287.3:c.2190C>A | XP_005253344.1:p.His730Gln | |
| XM_005253288.2:c.2190C>A | XP_005253345.1:p.His730Gln | |
| XM_005253289.2:c.2190C>A | XP_005253346.1:p.His730Gln | |
| XM_005253290.2:c.2190C>A | XP_005253347.1:p.His730Gln | |
| XM_006719025.2:c.2190C>A | XP_006719088.1:p.His730Gln | |
| XM_011520545.1:c.2190C>A | XP_011518847.1:p.His730Gln | |
| XM_005253284.4:c.2190C>A | XP_005253341.1:p.His730Gln | |
| XM_005253286.4:c.2190C>A | XP_005253343.1:p.His730Gln | |
| XM_005253287.5:c.2190C>A | XP_005253344.1:p.His730Gln | |
| XM_005253288.4:c.2190C>A | XP_005253345.1:p.His730Gln | |
| XM_005253289.4:c.2190C>A | XP_005253346.1:p.His730Gln | |
| XM_005253290.4:c.2190C>A | XP_005253347.1:p.His730Gln | |
| XM_006719025.4:c.2190C>A | XP_006719088.1:p.His730Gln | |
| XM_011520545.3:c.2190C>A | XP_011518847.1:p.His730Gln | |
| NM_001377273.1:c.2190C>A | NP_001364202.1:p.His730Gln | |
| NM_001377274.1:c.1326C>A | NP_001364203.1:p.His442Gln | |
| NM_005691.4:c.2190C>A | NP_005682.2:p.His730Gln | |
| NM_020297.4:c.2190C>A MANE Select | NP_064693.2:p.His730Gln |