Linked Data
ClinVar Variation Id:
903547
dbSNP Id:
rs200070057
ExAC:
3:142232392 T / C
gnomAD v2:
3-142232392-T-C
gnomAD v3:
3-142513550-T-C
gnomAD v4:
3-142513550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142513550T>C , CM000665.2:g.142513550T>C | GRCh38 |
| NC_000003.11:g.142232392T>C , CM000665.1:g.142232392T>C | GRCh37 |
| NC_000003.10:g.143715082T>C | NCBI36 |
| NG_008951.1:g.70277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.4592A>G MANE Select | ENSP00000343741.4:p.His1531Arg | |
| ENST00000653868.1:n.4621A>G | ||
| ENST00000656590.1:c.3382A>G | ||
| ENST00000661310.1:c.4400A>G | ENSP00000499589.1:p.His1467Arg | |
| ENST00000666943.1:n.56A>G | ||
| ENST00000350721.8:c.4592A>G | ENSP00000343741.4:p.His1531Arg | |
| NM_001184.3:c.4592A>G | NP_001175.2:p.His1531Arg | |
| XM_011512924.1:c.4598A>G | XP_011511226.1:p.His1533Arg | |
| XM_011512925.1:c.4406A>G | XP_011511227.1:p.His1469Arg | |
| XM_011512926.1:c.4598A>G | XP_011511228.1:p.His1533Arg | |
| XM_011512927.1:c.4598A>G | XP_011511229.1:p.His1533Arg | |
| XR_924147.1:n.4687A>G | ||
| XR_924148.1:n.4687A>G | ||
| XR_924149.1:n.4687A>G | ||
| NM_001354579.1:c.4400A>G | NP_001341508.1:p.His1467Arg | |
| XR_001740179.2:n.4681A>G | ||
| XR_001740180.2:n.4687A>G | ||
| XR_001740181.2:n.4687A>G | ||
| XR_001740182.1:n.4687A>G | ||
| XR_002959543.1:n.4687A>G | ||
| XR_924148.2:n.4687A>G | ||
| NM_001184.4:c.4592A>G MANE Select | NP_001175.2:p.His1531Arg | |
| NM_001354579.2:c.4400A>G | NP_001341508.1:p.His1467Arg |