Linked Data
ClinVar Variation Id:
210003
dbSNP Id:
rs148776624
ExAC:
17:78357601 A / C
gnomAD v2:
17-78357601-A-C
gnomAD v3:
17-80383801-A-C
gnomAD v4:
17-80383801-A-C
PubMed:
PMID:25278557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80383801A>C , CM000679.2:g.80383801A>C | GRCh38 |
| NC_000017.10:g.78357601A>C , CM000679.1:g.78357601A>C | GRCh37 |
| NC_000017.9:g.75972196A>C | NCBI36 |
| NG_031980.2:g.127941A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.14195A>C (RNF213) MANE Select | ENSP00000464087.1:p.Lys4732Thr | |
| ENST00000411702.7:n.3244A>C (RNF213) | ||
| ENST00000427003.7:n.309A>C (RNF213) | ||
| ENST00000508628.6:c.14342A>C (RNF213) | ENSP00000425956.2:p.Lys4781Thr | |
| ENST00000582970.5:c.14195A>C (RNF213) | ENSP00000464087.1:p.Lys4732Thr | |
| NM_001256071.2:c.14195A>C (RNF213) | NP_001243000.2:p.Lys4732Thr | |
| NR_029376.1:n.241-28513T>G (RNF213-AS1) | ||
| XM_005257545.3:c.14342A>C (RNF213) | XP_005257602.2:p.Lys4781Thr | |
| XM_005257546.3:c.14342A>C (RNF213) | XP_005257603.2:p.Lys4781Thr | |
| XM_006721995.2:c.14342A>C (RNF213) | XP_006722058.1:p.Lys4781Thr | |
| XM_011525084.1:c.14342A>C (RNF213) | XP_011523386.1:p.Lys4781Thr | |
| XM_005257545.4:c.14342A>C (RNF213) | XP_005257602.2:p.Lys4781Thr | |
| XM_005257546.4:c.14342A>C (RNF213) | XP_005257603.2:p.Lys4781Thr | |
| XM_006721995.3:c.14342A>C (RNF213) | XP_006722058.1:p.Lys4781Thr | |
| XM_011525084.2:c.14342A>C (RNF213) | XP_011523386.1:p.Lys4781Thr | |
| XM_017024905.2:c.13337A>C (RNF213) | XP_016880394.1:p.Lys4446Thr | |
| NM_001256071.3:c.14195A>C (RNF213) MANE Select | NP_001243000.2:p.Lys4732Thr |