Linked Data
ClinVar Variation Id:
3172
ClinVar RCV Id:
RCV000003322
dbSNP Id:
rs120074172
ExAC:
3:120352070 T / C
gnomAD v2:
3-120352070-T-C
gnomAD v3:
3-120633223-T-C
gnomAD v4:
3-120633223-T-C
PubMed:
PMID:10594001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633223T>C , CM000665.2:g.120633223T>C | GRCh38 |
| NC_000003.11:g.120352070T>C , CM000665.1:g.120352070T>C | GRCh37 |
| NC_000003.10:g.121834760T>C | NCBI36 |
| NG_011957.1:g.54259A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1112A>G MANE Select | ENSP00000283871.5:p.His371Arg | |
| ENST00000283871.9:c.1112A>G | ENSP00000283871.5:p.His371Arg | |
| ENST00000470321.1:n.452A>G | ||
| ENST00000492108.5:c.391A>G | ENSP00000419838.1:n.391A>G | |
| NM_000187.3:c.1112A>G | NP_000178.2:p.His371Arg | |
| XM_005247412.1:c.887A>G | XP_005247469.1:p.His296Arg | |
| XM_005247412.2:c.887A>G | XP_005247469.1:p.His296Arg | |
| XM_017006277.2:c.689A>G | XP_016861766.1:p.His230Arg | |
| NM_000187.4:c.1112A>G MANE Select | NP_000178.2:p.His371Arg |