Linked Data
ClinVar Variation Id:
13898
ClinVar RCV Id:
RCV000014912
dbSNP Id:
rs121913666
gnomAD v4:
2-15945847-G-A
PubMed:
PMID:18671284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945847G>A , CM000664.2:g.15945847G>A | GRCh38 |
| NC_000002.11:g.16085969G>A , CM000664.1:g.16085969G>A | GRCh37 |
| NC_000002.10:g.16003420G>A | NCBI36 |
| NG_007457.1:g.10287G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703162.1:n.494G>A | ||
| ENST00000281043.4:c.1145G>A MANE Select | ENSP00000281043.3:p.Arg382His | |
| ENST00000638417.1:c.512G>A | ENSP00000491476.1:p.Arg171His | |
| ENST00000281043.3:c.1145G>A | ENSP00000281043.3:p.Arg382His | |
| NM_001293228.1:c.1145G>A | NP_001280157.1:p.Arg382His | |
| NM_001293231.1:c.512G>A | NP_001280160.1:p.Arg171His | |
| NM_001293233.1:c.*1080G>A | NP_001280162.1:n.*1080G>A | |
| NM_005378.5:c.1145G>A | NP_005369.2:p.Arg382His | |
| NM_005378.6:c.1145G>A MANE Select | NP_005369.2:p.Arg382His | |
| NM_001293228.2:c.1145G>A | NP_001280157.1:p.Arg382His | |
| NM_001293231.2:c.512G>A | NP_001280160.1:p.Arg171His | |
| NM_001293233.2:c.*1080G>A | NP_001280162.1:n.*1080G>A |