Linked Data
ClinVar Variation Id:
417849
dbSNP Id:
rs1241745586
gnomAD v2:
17-78341912-G-A
gnomAD v4:
17-80368112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80368112G>A , CM000679.2:g.80368112G>A | GRCh38 |
| NC_000017.10:g.78341912G>A , CM000679.1:g.78341912G>A | GRCh37 |
| NC_000017.9:g.75956507G>A | NCBI36 |
| NG_031980.2:g.112252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12124G>A (RNF213) MANE Select | ENSP00000464087.1:p.Glu4042Lys | |
| ENST00000508628.6:c.12271G>A (RNF213) | ENSP00000425956.2:p.Glu4091Lys | |
| ENST00000558116.5:n.1453G>A (RNF213) | ||
| ENST00000582970.5:c.12124G>A (RNF213) | ENSP00000464087.1:p.Glu4042Lys | |
| NM_001256071.2:c.12124G>A (RNF213) | NP_001243000.2:p.Glu4042Lys | |
| NR_029376.1:n.241-12824C>T (RNF213-AS1) | ||
| XM_005257545.3:c.12271G>A (RNF213) | XP_005257602.2:p.Glu4091Lys | |
| XM_005257546.3:c.12271G>A (RNF213) | XP_005257603.2:p.Glu4091Lys | |
| XM_006721995.2:c.12271G>A (RNF213) | XP_006722058.1:p.Glu4091Lys | |
| XM_011525084.1:c.12271G>A (RNF213) | XP_011523386.1:p.Glu4091Lys | |
| XM_011525085.1:c.12271G>A (RNF213) | XP_011523387.1:p.Glu4091Lys | |
| XM_011525086.1:c.12271G>A (RNF213) | XP_011523388.1:p.Glu4091Lys | |
| XR_243676.3:n.12442G>A (RNF213) | ||
| XM_005257545.4:c.12271G>A (RNF213) | XP_005257602.2:p.Glu4091Lys | |
| XM_005257546.4:c.12271G>A (RNF213) | XP_005257603.2:p.Glu4091Lys | |
| XM_006721995.3:c.12271G>A (RNF213) | XP_006722058.1:p.Glu4091Lys | |
| XM_011525084.2:c.12271G>A (RNF213) | XP_011523386.1:p.Glu4091Lys | |
| XM_011525086.2:c.12271G>A (RNF213) | XP_011523388.1:p.Glu4091Lys | |
| XM_017024905.2:c.11266G>A (RNF213) | XP_016880394.1:p.Glu3756Lys | |
| NM_001256071.3:c.12124G>A (RNF213) MANE Select | NP_001243000.2:p.Glu4042Lys |