Linked Data
ClinVar Variation Id:
1098936
ClinVar RCV Id:
RCV001842029
dbSNP Id:
rs774053920
ExAC:
17:8192398 A / G
gnomAD v2:
17-8192398-A-G
gnomAD v4:
17-8289080-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8289080A>G , CM000679.2:g.8289080A>G | GRCh38 |
| NC_000017.10:g.8192398A>G , CM000679.1:g.8192398A>G | GRCh37 |
| NC_000017.9:g.8133123A>G | NCBI36 |
| NG_028189.1:g.5430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.194+8A>G (RANGRF) MANE Select | ENSP00000226105.6:n.194+8A>G | |
| ENST00000226105.10:c.194+8A>G (RANGRF) | ENSP00000226105.6:n.194+8A>G | |
| ENST00000380067.6:c.*536T>C (SLC25A35) | ENSP00000369407.2:n.*536T>C | |
| ENST00000407006.8:c.194+8A>G (RANGRF) | ENSP00000383940.4:n.194+8A>G | |
| ENST00000439238.3:c.194+8A>G (RANGRF) | ENSP00000413190.3:n.194+8A>G | |
| ENST00000578849.1:n.292A>G (RANGRF) | ||
| ENST00000579192.5:c.*42+494T>C (SLC25A35) | ENSP00000462395.1:n.*42+494T>C | |
| ENST00000580340.5:c.*403T>C (SLC25A35) | ENSP00000464071.1:n.*403T>C | |
| ENST00000580434.5:c.194+8A>G (RANGRF) | ENSP00000462310.1:n.194+8A>G | |
| ENST00000580777.1:n.188+8A>G (RANGRF) | ||
| ENST00000585311.5:c.*448T>C (SLC25A35) | ENSP00000464191.1:n.*448T>C | |
| NM_001177801.1:c.194+8A>G (RANGRF) | NP_001171272.1:n.194+8A>G | |
| NM_001177802.1:c.194+8A>G (RANGRF) | NP_001171273.1:n.194+8A>G | |
| NM_016492.4:c.194+8A>G (RANGRF) | NP_057576.2:n.194+8A>G | |
| NM_201520.1:c.*536T>C (SLC25A35) | NP_958928.1:n.*536T>C | |
| XM_005256618.3:c.194+8A>G (RANGRF) | XP_005256675.1:n.194+8A>G | |
| NM_001320871.1:c.*42+494T>C (SLC25A35) | NP_001307800.1:n.*42+494T>C | |
| NM_001320872.1:c.*403T>C (SLC25A35) | NP_001307801.1:n.*403T>C | |
| NM_001330127.1:c.194+8A>G (RANGRF) | NP_001317056.1:n.194+8A>G | |
| NM_201520.2:c.*536T>C (SLC25A35) | NP_958928.1:n.*536T>C | |
| NR_135484.1:n.1860T>C (SLC25A35) | ||
| NM_016492.5:c.194+8A>G (RANGRF) MANE Select | NP_057576.2:n.194+8A>G | |
| NM_001177801.2:c.194+8A>G (RANGRF) | NP_001171272.1:n.194+8A>G | |
| NM_001177802.2:c.194+8A>G (RANGRF) | NP_001171273.1:n.194+8A>G | |
| NM_001320871.2:c.*42+494T>C (SLC25A35) | NP_001307800.1:n.*42+494T>C | |
| NM_001330127.2:c.194+8A>G (RANGRF) | NP_001317056.1:n.194+8A>G | |
| NM_201520.3:c.*536T>C (SLC25A35) | NP_958928.1:n.*536T>C | |
| NR_135483.2:n.2081T>C (SLC25A35) | ||
| NM_001320872.2:c.*403T>C (SLC25A35) | NP_001307801.1:n.*403T>C | |
| NR_135484.2:n.1917T>C (SLC25A35) |