Linked Data
ClinVar Variation Id:
522884
dbSNP Id:
rs745864233
ExAC:
3:33109736 C / T
gnomAD v2:
3-33109736-C-T
gnomAD v3:
3-33068244-C-T
gnomAD v4:
3-33068244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33068244C>T , CM000665.2:g.33068244C>T | GRCh38 |
| NC_000003.11:g.33109736C>T , CM000665.1:g.33109736C>T | GRCh37 |
| NC_000003.10:g.33084740C>T | NCBI36 |
| NG_009005.1:g.33959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.443G>A MANE Select | ENSP00000306920.4:p.Arg148His | |
| ENST00000307363.9:c.443G>A | ENSP00000306920.4:p.Arg148His | |
| ENST00000307377.12:c.246-2687G>A | ENSP00000305920.8:n.246-2687G>A | |
| ENST00000399402.7:c.353G>A | ENSP00000382333.2:p.Arg118His | |
| ENST00000415454.1:c.76-9975G>A | ENSP00000411813.1:n.76-9975G>A | |
| ENST00000438227.1:c.76-2687G>A | ENSP00000401250.1:n.76-2687G>A | |
| ENST00000440656.1:c.50G>A | ENSP00000411769.1:p.Arg17His | |
| ENST00000446732.5:c.156-2687G>A | ENSP00000407365.1:n.156-2687G>A | |
| ENST00000464355.1:n.401G>A | ||
| ENST00000482097.5:n.109-14695G>A | ||
| ENST00000485698.5:n.137-14695G>A | ||
| ENST00000498537.5:n.133-14695G>A | ||
| NM_000404.2:c.443G>A | NP_000395.2:p.Arg148His | |
| NM_000404.3:c.443G>A | NP_000395.2:p.Arg148His | |
| NM_001079811.1:c.353G>A | NP_001073279.1:p.Arg118His | |
| NM_001079811.2:c.353G>A | NP_001073279.1:p.Arg118His | |
| NM_001135602.1:c.246-2687G>A | NP_001129074.1:n.246-2687G>A | |
| NM_001135602.2:c.246-2687G>A | NP_001129074.1:n.246-2687G>A | |
| NM_001317040.1:c.587G>A | NP_001303969.1:p.Arg196His | |
| NM_000404.4:c.443G>A MANE Select | NP_000395.3:p.Arg148His | |
| NM_001079811.3:c.353G>A | NP_001073279.2:p.Arg118His | |
| NM_001135602.3:c.246-2687G>A | NP_001129074.2:n.246-2687G>A | |
| NM_001317040.2:c.587G>A | NP_001303969.2:p.Arg196His | |
| NM_001393580.1:c.443G>A | NP_001380509.1:p.Arg148His |