Linked Data
ClinVar Variation Id:
10859
ClinVar RCV Id:
RCV000011606
dbSNP Id:
rs137853261
PubMed:
PMID:9632163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129569369C>G , CM000685.2:g.129569369C>G | GRCh38 |
| NC_000023.10:g.128703346C>G , CM000685.1:g.128703346C>G | GRCh37 |
| NC_000023.9:g.128531027C>G | NCBI36 |
| NG_008638.1:g.34095C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691455.1:c.*1864C>G | ENSP00000510265.1:n.*1864C>G | |
| ENST00000693473.1:c.1689C>G | ||
| ENST00000371113.9:c.1572C>G MANE Select | ENSP00000360154.4:p.His524Gln | |
| ENST00000646010.1:c.1620C>G | ||
| ENST00000646914.1:c.683C>G | ||
| ENST00000647245.1:c.1223C>G | ||
| ENST00000357121.5:c.1572C>G | ENSP00000349635.5:p.His524Gln | |
| ENST00000371113.8:c.1572C>G | ENSP00000360154.4:p.His524Gln | |
| NM_000276.3:c.1572C>G | NP_000267.2:p.His524Gln | |
| NM_001587.3:c.1572C>G | NP_001578.2:p.His524Gln | |
| XM_005262422.1:c.1101C>G | XP_005262479.1:p.His367Gln | |
| XM_011531342.1:c.1575C>G | XP_011529644.1:p.His525Gln | |
| XM_011531343.1:c.1575C>G | XP_011529645.1:p.His525Gln | |
| XM_011531344.1:c.1428C>G | XP_011529646.1:p.His476Gln | |
| XM_011531345.1:c.1428C>G | XP_011529647.1:p.His476Gln | |
| XM_011531346.1:c.1575C>G | XP_011529648.1:p.His525Gln | |
| NM_001318784.1:c.1575C>G | NP_001305713.1:p.His525Gln | |
| XM_005262422.2:c.1101C>G | XP_005262479.1:p.His367Gln | |
| XM_011531344.3:c.1428C>G | XP_011529646.1:p.His476Gln | |
| XM_011531345.3:c.1428C>G | XP_011529647.1:p.His476Gln | |
| XM_017029554.1:c.1572C>G | XP_016885043.1:p.His524Gln | |
| NM_000276.4:c.1572C>G MANE Select | NP_000267.2:p.His524Gln | |
| NM_001318784.2:c.1575C>G | NP_001305713.1:p.His525Gln | |
| NM_001587.4:c.1572C>G | NP_001578.2:p.His524Gln |