Linked Data
dbSNP Id:
rs749832315
ExAC:
17:78346875 C / T
gnomAD v2:
17-78346875-C-T
gnomAD v3:
17-80373075-C-T
gnomAD v4:
17-80373075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80373075C>T , CM000679.2:g.80373075C>T | GRCh38 |
| NC_000017.10:g.78346875C>T , CM000679.1:g.78346875C>T | GRCh37 |
| NC_000017.9:g.75961470C>T | NCBI36 |
| NG_031980.2:g.117215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12852C>T (RNF213) MANE Select | ENSP00000464087.1:p.Ser4284= | |
| ENST00000411702.7:n.650C>T (RNF213) | ||
| ENST00000508628.6:c.12999C>T (RNF213) | ENSP00000425956.2:p.Ser4333= | |
| ENST00000558116.5:n.2181C>T (RNF213) | ||
| ENST00000573038.1:c.7C>T (RNF213) | ||
| ENST00000582970.5:c.12852C>T (RNF213) | ENSP00000464087.1:p.Ser4284= | |
| NM_001256071.2:c.12852C>T (RNF213) | NP_001243000.2:p.Ser4284= | |
| NR_029376.1:n.241-17787G>A (RNF213-AS1) | ||
| XM_005257545.3:c.12999C>T (RNF213) | XP_005257602.2:p.Ser4333= | |
| XM_005257546.3:c.12999C>T (RNF213) | XP_005257603.2:p.Ser4333= | |
| XM_006721995.2:c.12999C>T (RNF213) | XP_006722058.1:p.Ser4333= | |
| XM_011525084.1:c.12999C>T (RNF213) | XP_011523386.1:p.Ser4333= | |
| XM_011525085.1:c.12999C>T (RNF213) | XP_011523387.1:p.Ser4333= | |
| XR_243676.3:n.13170C>T (RNF213) | ||
| XM_005257545.4:c.12999C>T (RNF213) | XP_005257602.2:p.Ser4333= | |
| XM_005257546.4:c.12999C>T (RNF213) | XP_005257603.2:p.Ser4333= | |
| XM_006721995.3:c.12999C>T (RNF213) | XP_006722058.1:p.Ser4333= | |
| XM_011525084.2:c.12999C>T (RNF213) | XP_011523386.1:p.Ser4333= | |
| XM_017024905.2:c.11994C>T (RNF213) | XP_016880394.1:p.Ser3998= | |
| NM_001256071.3:c.12852C>T (RNF213) MANE Select | NP_001243000.2:p.Ser4284= |