Linked Data
ClinVar Variation Id:
225918
dbSNP Id:
rs371447931
gnomAD v2:
15-45658377-C-T
gnomAD v3:
15-45366179-C-T
gnomAD v4:
15-45366179-C-T
PubMed:
PMID:27233232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45366179C>T , CM000677.2:g.45366179C>T | GRCh38 |
| NC_000015.9:g.45658377C>T , CM000677.1:g.45658377C>T | GRCh37 |
| NC_000015.8:g.43445669C>T | NCBI36 |
| NG_011674.1:g.17604G>A | |
| NG_011674.2:g.41139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.845G>A MANE Select | ENSP00000379895.3:p.Arg282His | |
| ENST00000674905.1:c.845G>A | ENSP00000502176.1:p.Arg282His | |
| ENST00000675158.1:c.845G>A | ENSP00000501737.1:p.Arg282His | |
| ENST00000675323.1:c.845G>A | ENSP00000502445.1:p.Arg282His | |
| ENST00000675701.1:c.785G>A | ENSP00000502671.1:p.Arg262His | |
| ENST00000675974.1:n.936G>A | ||
| ENST00000676090.1:c.*1576G>A | ENSP00000501630.1:n.*1576G>A | |
| ENST00000396659.7:c.845G>A | ENSP00000379895.3:p.Arg282His | |
| ENST00000558336.5:c.845G>A | ENSP00000454008.1:p.Arg282His | |
| ENST00000558362.5:n.2501G>A | ||
| ENST00000558916.1:n.743G>A | ||
| NM_001482.2:c.845G>A | NP_001473.1:p.Arg282His | |
| XM_011521450.1:c.893G>A | XP_011519752.1:p.Arg298His | |
| XM_011521451.1:c.887G>A | XP_011519753.1:p.Arg296His | |
| NM_001321015.1:c.458G>A | NP_001307944.1:p.Arg153His | |
| NM_001482.3:c.845G>A MANE Select | NP_001473.1:p.Arg282His | |
| NM_001321015.2:c.458G>A | NP_001307944.1:p.Arg153His |