Linked Data
dbSNP Id:
rs749152414
ExAC:
17:78341875 G / A
gnomAD v2:
17-78341875-G-A
gnomAD v3:
17-80368075-G-A
gnomAD v4:
17-80368075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80368075G>A , CM000679.2:g.80368075G>A | GRCh38 |
| NC_000017.10:g.78341875G>A , CM000679.1:g.78341875G>A | GRCh37 |
| NC_000017.9:g.75956470G>A | NCBI36 |
| NG_031980.2:g.112215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12087G>A (RNF213) MANE Select | ENSP00000464087.1:p.Gln4029= | |
| ENST00000508628.6:c.12234G>A (RNF213) | ENSP00000425956.2:p.Gln4078= | |
| ENST00000558116.5:n.1416G>A (RNF213) | ||
| ENST00000582970.5:c.12087G>A (RNF213) | ENSP00000464087.1:p.Gln4029= | |
| NM_001256071.2:c.12087G>A (RNF213) | NP_001243000.2:p.Gln4029= | |
| NR_029376.1:n.241-12787C>T (RNF213-AS1) | ||
| XM_005257545.3:c.12234G>A (RNF213) | XP_005257602.2:p.Gln4078= | |
| XM_005257546.3:c.12234G>A (RNF213) | XP_005257603.2:p.Gln4078= | |
| XM_006721995.2:c.12234G>A (RNF213) | XP_006722058.1:p.Gln4078= | |
| XM_011525084.1:c.12234G>A (RNF213) | XP_011523386.1:p.Gln4078= | |
| XM_011525085.1:c.12234G>A (RNF213) | XP_011523387.1:p.Gln4078= | |
| XM_011525086.1:c.12234G>A (RNF213) | XP_011523388.1:p.Gln4078= | |
| XR_243676.3:n.12405G>A (RNF213) | ||
| XM_005257545.4:c.12234G>A (RNF213) | XP_005257602.2:p.Gln4078= | |
| XM_005257546.4:c.12234G>A (RNF213) | XP_005257603.2:p.Gln4078= | |
| XM_006721995.3:c.12234G>A (RNF213) | XP_006722058.1:p.Gln4078= | |
| XM_011525084.2:c.12234G>A (RNF213) | XP_011523386.1:p.Gln4078= | |
| XM_011525086.2:c.12234G>A (RNF213) | XP_011523388.1:p.Gln4078= | |
| XM_017024905.2:c.11229G>A (RNF213) | XP_016880394.1:p.Gln3743= | |
| NM_001256071.3:c.12087G>A (RNF213) MANE Select | NP_001243000.2:p.Gln4029= |