Linked Data
ClinVar Variation Id:
521991
dbSNP Id:
rs780523881
ExAC:
3:33114135 C / T
gnomAD v2:
3-33114135-C-T
gnomAD v4:
3-33072643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33072643C>T , CM000665.2:g.33072643C>T | GRCh38 |
| NC_000003.11:g.33114135C>T , CM000665.1:g.33114135C>T | GRCh37 |
| NC_000003.10:g.33089139C>T | NCBI36 |
| NG_009005.1:g.29560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.146G>A MANE Select | ENSP00000306920.4:p.Arg49His | |
| ENST00000307363.9:c.146G>A | ENSP00000306920.4:p.Arg49His | |
| ENST00000307377.12:c.146G>A | ENSP00000305920.8:p.Arg49His | |
| ENST00000399402.7:c.56G>A | ENSP00000382333.2:p.Arg19His | |
| ENST00000415454.1:c.76-14374G>A | ENSP00000411813.1:n.76-14374G>A | |
| ENST00000436768.1:c.290G>A | ENSP00000387989.1:p.Arg97His | |
| ENST00000438227.1:c.76-7086G>A | ENSP00000401250.1:n.76-7086G>A | |
| ENST00000440656.1:c.-148-3673G>A | ENSP00000411769.1:n.-148-3673G>A | |
| ENST00000446732.5:c.56G>A | ENSP00000407365.1:p.Arg19His | |
| ENST00000450835.1:c.56G>A | ENSP00000403264.1:p.Arg19His | |
| ENST00000464355.1:n.104G>A | ||
| ENST00000482097.5:n.109-19094G>A | ||
| ENST00000485698.5:n.137-19094G>A | ||
| ENST00000498537.5:n.133-19094G>A | ||
| NM_000404.2:c.146G>A | NP_000395.2:p.Arg49His | |
| NM_000404.3:c.146G>A | NP_000395.2:p.Arg49His | |
| NM_001079811.1:c.56G>A | NP_001073279.1:p.Arg19His | |
| NM_001079811.2:c.56G>A | NP_001073279.1:p.Arg19His | |
| NM_001135602.1:c.146G>A | NP_001129074.1:p.Arg49His | |
| NM_001135602.2:c.146G>A | NP_001129074.1:p.Arg49His | |
| NM_001317040.1:c.290G>A | NP_001303969.1:p.Arg97His | |
| NM_000404.4:c.146G>A MANE Select | NP_000395.3:p.Arg49His | |
| NM_001079811.3:c.56G>A | NP_001073279.2:p.Arg19His | |
| NM_001135602.3:c.146G>A | NP_001129074.2:p.Arg49His | |
| NM_001317040.2:c.290G>A | NP_001303969.2:p.Arg97His | |
| NM_001393580.1:c.146G>A | NP_001380509.1:p.Arg49His |