Linked Data
dbSNP Id:
rs756045275
ExAC:
17:78341958 C / A
gnomAD v2:
17-78341958-C-A
gnomAD v4:
17-80368158-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80368158C>A , CM000679.2:g.80368158C>A | GRCh38 |
| NC_000017.10:g.78341958C>A , CM000679.1:g.78341958C>A | GRCh37 |
| NC_000017.9:g.75956553C>A | NCBI36 |
| NG_031980.2:g.112298C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12155+15C>A (RNF213) MANE Select | ENSP00000464087.1:n.12155+15C>A | |
| ENST00000508628.6:c.12302+15C>A (RNF213) | ENSP00000425956.2:n.12302+15C>A | |
| ENST00000558116.5:n.1484+15C>A (RNF213) | ||
| ENST00000582970.5:c.12155+15C>A (RNF213) | ENSP00000464087.1:n.12155+15C>A | |
| NM_001256071.2:c.12155+15C>A (RNF213) | NP_001243000.2:n.12155+15C>A | |
| NR_029376.1:n.241-12870G>T (RNF213-AS1) | ||
| XM_005257545.3:c.12302+15C>A (RNF213) | XP_005257602.2:n.12302+15C>A | |
| XM_005257546.3:c.12302+15C>A (RNF213) | XP_005257603.2:n.12302+15C>A | |
| XM_006721995.2:c.12302+15C>A (RNF213) | XP_006722058.1:n.12302+15C>A | |
| XM_011525084.1:c.12302+15C>A (RNF213) | XP_011523386.1:n.12302+15C>A | |
| XM_011525085.1:c.12302+15C>A (RNF213) | XP_011523387.1:n.12302+15C>A | |
| XM_011525086.1:c.12302+15C>A (RNF213) | XP_011523388.1:n.12302+15C>A | |
| XR_243676.3:n.12473+15C>A (RNF213) | ||
| XM_005257545.4:c.12302+15C>A (RNF213) | XP_005257602.2:n.12302+15C>A | |
| XM_005257546.4:c.12302+15C>A (RNF213) | XP_005257603.2:n.12302+15C>A | |
| XM_006721995.3:c.12302+15C>A (RNF213) | XP_006722058.1:n.12302+15C>A | |
| XM_011525084.2:c.12302+15C>A (RNF213) | XP_011523386.1:n.12302+15C>A | |
| XM_011525086.2:c.12302+15C>A (RNF213) | XP_011523388.1:n.12302+15C>A | |
| XM_017024905.2:c.11297+15C>A (RNF213) | XP_016880394.1:n.11297+15C>A | |
| NM_001256071.3:c.12155+15C>A (RNF213) MANE Select | NP_001243000.2:n.12155+15C>A |