Linked Data
ClinVar Variation Id:
198077
ClinVar RCV Id:
RCV000255006
RCV000309607
RCV000665698
RCV000818052
RCV000995553
RCV002286710
RCV002500509
dbSNP Id:
rs189115557
ExAC:
3:33099712 C / T
gnomAD v2:
3-33099712-C-T
gnomAD v3:
3-33058220-C-T
gnomAD v4:
3-33058220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33058220C>T , CM000665.2:g.33058220C>T | GRCh38 |
| NC_000003.11:g.33099712C>T , CM000665.1:g.33099712C>T | GRCh37 |
| NC_000003.10:g.33074716C>T | NCBI36 |
| NG_009005.1:g.43983G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.602G>A MANE Select | ENSP00000306920.4:p.Arg201His | |
| ENST00000307363.9:c.602G>A | ENSP00000306920.4:p.Arg201His | |
| ENST00000307377.12:c.341-4671G>A | ENSP00000305920.8:n.341-4671G>A | |
| ENST00000399402.7:c.512G>A | ENSP00000382333.2:p.Arg171His | |
| ENST00000415454.1:c.125G>A | ENSP00000411813.1:p.Arg42His | |
| ENST00000438227.1:c.*94G>A | ENSP00000401250.1:n.*94G>A | |
| ENST00000440656.1:c.209G>A | ENSP00000411769.1:p.Arg70His | |
| ENST00000446732.5:c.*45G>A | ENSP00000407365.1:n.*45G>A | |
| ENST00000482097.5:n.109-4671G>A | ||
| ENST00000485698.5:n.137-4671G>A | ||
| ENST00000498537.5:n.133-4671G>A | ||
| NM_000404.2:c.602G>A | NP_000395.2:p.Arg201His | |
| NM_000404.3:c.602G>A | NP_000395.2:p.Arg201His | |
| NM_001079811.1:c.512G>A | NP_001073279.1:p.Arg171His | |
| NM_001079811.2:c.512G>A | NP_001073279.1:p.Arg171His | |
| NM_001135602.1:c.341-4671G>A | NP_001129074.1:n.341-4671G>A | |
| NM_001135602.2:c.341-4671G>A | NP_001129074.1:n.341-4671G>A | |
| NM_001317040.1:c.746G>A | NP_001303969.1:p.Arg249His | |
| NM_000404.4:c.602G>A MANE Select | NP_000395.3:p.Arg201His | |
| NM_001079811.3:c.512G>A | NP_001073279.2:p.Arg171His | |
| NM_001135602.3:c.341-4671G>A | NP_001129074.2:n.341-4671G>A | |
| NM_001317040.2:c.746G>A | NP_001303969.2:p.Arg249His | |
| NM_001393580.1:c.602G>A | NP_001380509.1:p.Arg201His |