Revel Score:
ENST00000508628
0.074
ENST00000411702
0.074
ENST00000336301
0.074
ENST00000427003
0.074
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80385145G>C , CM000679.2:g.80385145G>C | GRCh38 |
| NC_000017.10:g.78358945G>C , CM000679.1:g.78358945G>C | GRCh37 |
| NC_000017.9:g.75973540G>C | NCBI36 |
| NG_031980.2:g.129285G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.14429G>C (RNF213) MANE Select | ENSP00000464087.1:p.Arg4810Thr | |
| ENST00000411702.7:n.3478G>C (RNF213) | ||
| ENST00000427003.7:n.543G>C (RNF213) | ||
| ENST00000508628.6:c.14576G>C (RNF213) | ENSP00000425956.2:p.Arg4859Thr | |
| ENST00000570776.1:n.273G>C (RNF213) | ||
| ENST00000582970.5:c.14429G>C (RNF213) | ENSP00000464087.1:p.Arg4810Thr | |
| NM_001256071.2:c.14429G>C (RNF213) | NP_001243000.2:p.Arg4810Thr | |
| NR_029376.1:n.240+29784C>G (RNF213-AS1) | ||
| XM_005257545.3:c.14576G>C (RNF213) | XP_005257602.2:p.Arg4859Thr | |
| XM_005257546.3:c.14576G>C (RNF213) | XP_005257603.2:p.Arg4859Thr | |
| XM_006721995.2:c.14576G>C (RNF213) | XP_006722058.1:p.Arg4859Thr | |
| XM_011525084.1:c.14470-393G>C (RNF213) | XP_011523386.1:n.14470-393G>C | |
| XM_005257545.4:c.14576G>C (RNF213) | XP_005257602.2:p.Arg4859Thr | |
| XM_005257546.4:c.14576G>C (RNF213) | XP_005257603.2:p.Arg4859Thr | |
| XM_006721995.3:c.14576G>C (RNF213) | XP_006722058.1:p.Arg4859Thr | |
| XM_011525084.2:c.14470-393G>C (RNF213) | XP_011523386.1:n.14470-393G>C | |
| XM_017024905.2:c.13571G>C (RNF213) | XP_016880394.1:p.Arg4524Thr | |
| NM_001256071.3:c.14429G>C (RNF213) MANE Select | NP_001243000.2:p.Arg4810Thr |