Linked Data
ClinVar Variation Id:
2107
ClinVar RCV Id:
RCV000002188
dbSNP Id:
rs28940310
gnomAD v3:
12-115975287-C-T
gnomAD v4:
12-115975287-C-T
PubMed:
PMID:14638541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975287C>T , CM000674.2:g.115975287C>T | GRCh38 |
| NC_000012.11:g.116413092C>T , CM000674.1:g.116413092C>T | GRCh37 |
| NC_000012.10:g.114897475C>T | NCBI36 |
| NG_023366.1:g.306900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5615G>A MANE Select | ENSP00000281928.3:p.Arg1872His | |
| ENST00000548694.2:n.605G>A | ||
| ENST00000648379.1:n.3983G>A | ||
| ENST00000648737.1:n.5379G>A | ||
| ENST00000648825.1:n.3800G>A | ||
| ENST00000648916.1:n.3626G>A | ||
| ENST00000649607.1:c.3799G>A | ||
| ENST00000649775.1:c.2104G>A | ||
| ENST00000650226.1:c.5651G>A | ENSP00000496981.1:p.Arg1884His | |
| ENST00000281928.7:c.5615G>A | ENSP00000281928.3:p.Arg1872His | |
| ENST00000548694.1:n.605G>A | ||
| ENST00000552447.1:c.228G>A | ||
| NM_015335.4:c.5615G>A | NP_056150.1:p.Arg1872His | |
| XM_011538080.1:c.5651G>A | XP_011536382.1:p.Arg1884His | |
| XM_011538081.1:c.5648G>A | XP_011536383.1:p.Arg1883His | |
| XM_011538082.1:c.5621G>A | XP_011536384.1:p.Arg1874His | |
| XM_011538080.2:c.5651G>A | XP_011536382.1:p.Arg1884His | |
| XM_011538081.2:c.5648G>A | XP_011536383.1:p.Arg1883His | |
| XM_011538082.2:c.5621G>A | XP_011536384.1:p.Arg1874His | |
| XM_017019090.1:c.5612G>A | XP_016874579.1:p.Arg1871His | |
| NM_015335.5:c.5615G>A MANE Select | NP_056150.1:p.Arg1872His |