Linked Data
ClinVar Variation Id:
504154
ClinVar RCV Id:
RCV000598654
dbSNP Id:
rs766907090
ExAC:
17:78327307 T / A
gnomAD v2:
17-78327307-T-A
gnomAD v3:
17-80353507-T-A
gnomAD v4:
17-80353507-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80353507T>A , CM000679.2:g.80353507T>A | GRCh38 |
| NC_000017.10:g.78327307T>A , CM000679.1:g.78327307T>A | GRCh37 |
| NC_000017.9:g.75941902T>A | NCBI36 |
| NG_031980.2:g.97647T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.10424-5T>A (RNF213) MANE Select | ENSP00000464087.1:n.10424-5T>A | |
| ENST00000508628.6:c.10571-5T>A (RNF213) | ENSP00000425956.2:n.10571-5T>A | |
| ENST00000582970.5:c.10424-5T>A (RNF213) | ENSP00000464087.1:n.10424-5T>A | |
| NM_001256071.2:c.10424-5T>A (RNF213) | NP_001243000.2:n.10424-5T>A | |
| NR_029376.1:n.2022A>T (RNF213-AS1) | ||
| XM_005257545.3:c.10571-5T>A (RNF213) | XP_005257602.2:n.10571-5T>A | |
| XM_005257546.3:c.10571-5T>A (RNF213) | XP_005257603.2:n.10571-5T>A | |
| XM_006721995.2:c.10571-5T>A (RNF213) | XP_006722058.1:n.10571-5T>A | |
| XM_011525084.1:c.10571-5T>A (RNF213) | XP_011523386.1:n.10571-5T>A | |
| XM_011525085.1:c.10571-5T>A (RNF213) | XP_011523387.1:n.10571-5T>A | |
| XM_011525086.1:c.10571-5T>A (RNF213) | XP_011523388.1:n.10571-5T>A | |
| XM_011525087.1:c.10571-5T>A (RNF213) | XP_011523389.1:n.10571-5T>A | |
| XR_243676.3:n.10742-5T>A (RNF213) | ||
| XM_005257545.4:c.10571-5T>A (RNF213) | XP_005257602.2:n.10571-5T>A | |
| XM_005257546.4:c.10571-5T>A (RNF213) | XP_005257603.2:n.10571-5T>A | |
| XM_006721995.3:c.10571-5T>A (RNF213) | XP_006722058.1:n.10571-5T>A | |
| XM_011525084.2:c.10571-5T>A (RNF213) | XP_011523386.1:n.10571-5T>A | |
| XM_011525086.2:c.10571-5T>A (RNF213) | XP_011523388.1:n.10571-5T>A | |
| XM_011525087.3:c.10571-5T>A (RNF213) | XP_011523389.1:n.10571-5T>A | |
| XM_017024905.2:c.9566-5T>A (RNF213) | XP_016880394.1:n.9566-5T>A | |
| NM_001256071.3:c.10424-5T>A (RNF213) MANE Select | NP_001243000.2:n.10424-5T>A |