Linked Data
ClinVar Variation Id:
1988826
dbSNP Id:
rs1244836047
gnomAD v2:
6-30890956-G-A
gnomAD v3:
6-30923179-G-A
gnomAD v4:
6-30923179-G-A
COSMIC:
COSM5441768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923179G>A , CM000668.2:g.30923179G>A | GRCh38 |
| NC_000006.11:g.30890956G>A , CM000668.1:g.30890956G>A | GRCh37 |
| NC_000006.10:g.30998935G>A | NCBI36 |
| NG_034224.1:g.13972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2261G>A | ENSP00000441000.2:p.Arg754His | |
| ENST00000672801.1:c.2255G>A | ENSP00000500615.1:p.Arg752His | |
| ENST00000676266.1:c.2261G>A MANE Select | ENSP00000502585.1:p.Arg754His | |
| ENST00000321897.9:c.2261G>A | ENSP00000316092.5:p.Arg754His | |
| ENST00000469358.5:n.2249G>A | ||
| ENST00000476162.5:n.1048G>A | ||
| ENST00000477052.1:n.347G>A | ||
| ENST00000477288.5:n.4874G>A | ||
| ENST00000541562.5:c.2351G>A | ENSP00000441000.1:p.Arg784His | |
| ENST00000542001.5:c.2255G>A | ENSP00000438200.2:p.Arg752His | |
| ENST00000625423.2:c.1841G>A | ENSP00000485818.1:p.Arg614His | |
| NM_001167733.2:c.1841G>A | NP_001161205.1:p.Arg614His | |
| NM_001167734.1:c.2351G>A | NP_001161206.1:p.Arg784His | |
| NM_020442.5:c.2261G>A | NP_065175.4:p.Arg754His | |
| NM_001167733.3:c.1841G>A | NP_001161205.1:p.Arg614His | |
| NM_001167734.2:c.2351G>A | NP_001161206.1:p.Arg784His | |
| NM_020442.6:c.2261G>A MANE Select | NP_065175.4:p.Arg754His |