Linked Data
ClinVar Variation Id:
3498
ClinVar RCV Id:
RCV000003672
dbSNP Id:
rs121907907
PubMed:
PMID:9090524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392682G>C , CM000673.2:g.32392682G>C | GRCh38 |
| NC_000011.9:g.32414228G>C , CM000673.1:g.32414228G>C | GRCh37 |
| NC_000011.8:g.32370804G>C | NCBI36 |
| NG_009272.1:g.47860C>G , LRG_525:g.47860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1287C>G | ENSP00000331327.5:p.His429Gln | |
| ENST00000379077.9:c.*522C>G | ENSP00000368368.5:n.*522C>G | |
| ENST00000379079.8:c.687C>G | ENSP00000368370.2:p.His229Gln | |
| ENST00000448076.9:c.1338C>G | ENSP00000413452.5:p.His446Gln | |
| ENST00000452863.10:c.1338C>G MANE Select | ENSP00000415516.5:p.His446Gln | |
| ENST00000526685.2:n.792C>G | ||
| ENST00000639563.3:c.1287C>G | ENSP00000492269.3:p.His429Gln | |
| ENST00000639907.2:n.481C>G | ||
| ENST00000640146.2:c.663C>G | ENSP00000491984.2:p.His221Gln | |
| ENST00000650745.1:n.547C>G | ||
| ENST00000650861.1:n.1919C>G | ||
| ENST00000651459.1:c.109C>G | ||
| ENST00000651533.1:n.384C>G | ||
| ENST00000651668.1:n.275C>G | ||
| ENST00000651794.1:n.1181C>G | ||
| ENST00000651819.1:n.263C>G | ||
| ENST00000652579.1:n.598C>G | ||
| ENST00000652724.1:n.528C>G | ||
| ENST00000332351.7:c.1323C>G | ENSP00000331327.3:p.His441Gln | |
| ENST00000379077.7:c.*522C>G | ENSP00000368368.3:n.*522C>G | |
| ENST00000379079.6:c.687C>G | ENSP00000368370.2:p.His229Gln | |
| ENST00000448076.7:c.1323C>G | ENSP00000413452.3:p.His441Gln | |
| ENST00000452863.7:c.1272C>G | ENSP00000415516.3:p.His424Gln | |
| ENST00000527882.5:c.321-618C>G | ||
| ENST00000530998.5:c.636C>G | ENSP00000435307.1:p.His212Gln | |
| NM_000378.4:c.1272C>G | NP_000369.3:p.His424Gln | |
| NM_001198551.1:c.687C>G , LRG_525t2:c.687C>G | NP_001185480.1:p.His229Gln | |
| NM_001198552.1:c.636C>G | NP_001185481.1:p.His212Gln | |
| NM_024424.3:c.1323C>G | NP_077742.2:p.His441Gln | |
| NM_024426.4:c.1323C>G | NP_077744.3:p.His441Gln | |
| NM_000378.5:c.1287C>G | NP_000369.4:p.His429Gln | |
| NM_024424.4:c.1338C>G | NP_077742.3:p.His446Gln | |
| NM_024426.5:c.1338C>G | NP_077744.4:p.His446Gln | |
| NM_001367854.1:c.150C>G | NP_001354783.1:p.His50Gln | |
| NR_160306.1:n.1670C>G | ||
| NM_000378.6:c.1287C>G | NP_000369.4:p.His429Gln | |
| NM_001198552.2:c.636C>G | NP_001185481.1:p.His212Gln | |
| NM_024424.5:c.1338C>G | NP_077742.3:p.His446Gln | |
| NM_024426.6:c.1338C>G MANE Select | NP_077744.4:p.His446Gln |