Linked Data
dbSNP Id:
rs765614285
ExAC:
17:8192340 A / G
gnomAD v2:
17-8192340-A-G
gnomAD v3:
17-8289022-A-G
gnomAD v4:
17-8289022-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8289022A>G , CM000679.2:g.8289022A>G | GRCh38 |
| NC_000017.10:g.8192340A>G , CM000679.1:g.8192340A>G | GRCh37 |
| NC_000017.9:g.8133065A>G | NCBI36 |
| NG_028189.1:g.5372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.144A>G (RANGRF) MANE Select | ENSP00000226105.6:p.Ile48Met | |
| ENST00000226105.10:c.144A>G (RANGRF) | ENSP00000226105.6:p.Ile48Met | |
| ENST00000380067.6:c.*594T>C (SLC25A35) | ENSP00000369407.2:n.*594T>C | |
| ENST00000407006.8:c.144A>G (RANGRF) | ENSP00000383940.4:p.Ile48Met | |
| ENST00000439238.3:c.144A>G (RANGRF) | ENSP00000413190.3:p.Ile48Met | |
| ENST00000578849.1:n.234A>G (RANGRF) | ||
| ENST00000579192.5:c.*42+552T>C (SLC25A35) | ENSP00000462395.1:n.*42+552T>C | |
| ENST00000580340.5:c.*461T>C (SLC25A35) | ENSP00000464071.1:n.*461T>C | |
| ENST00000580434.5:c.144A>G (RANGRF) | ENSP00000462310.1:p.Ile48Met | |
| ENST00000580777.1:n.138A>G (RANGRF) | ||
| ENST00000581320.1:n.14T>C (SLC25A35) | ||
| ENST00000585311.5:c.*506T>C (SLC25A35) | ENSP00000464191.1:n.*506T>C | |
| NM_001177801.1:c.144A>G (RANGRF) | NP_001171272.1:p.Ile48Met | |
| NM_001177802.1:c.144A>G (RANGRF) | NP_001171273.1:p.Ile48Met | |
| NM_016492.4:c.144A>G (RANGRF) | NP_057576.2:p.Ile48Met | |
| NM_201520.1:c.*594T>C (SLC25A35) | NP_958928.1:n.*594T>C | |
| XM_005256618.3:c.144A>G (RANGRF) | XP_005256675.1:p.Ile48Met | |
| NM_001320871.1:c.*42+552T>C (SLC25A35) | NP_001307800.1:n.*42+552T>C | |
| NM_001320872.1:c.*461T>C (SLC25A35) | NP_001307801.1:n.*461T>C | |
| NM_001330127.1:c.144A>G (RANGRF) | NP_001317056.1:p.Ile48Met | |
| NM_201520.2:c.*594T>C (SLC25A35) | NP_958928.1:n.*594T>C | |
| NR_135484.1:n.1918T>C (SLC25A35) | ||
| NM_016492.5:c.144A>G (RANGRF) MANE Select | NP_057576.2:p.Ile48Met | |
| NM_001177801.2:c.144A>G (RANGRF) | NP_001171272.1:p.Ile48Met | |
| NM_001177802.2:c.144A>G (RANGRF) | NP_001171273.1:p.Ile48Met | |
| NM_001320871.2:c.*42+552T>C (SLC25A35) | NP_001307800.1:n.*42+552T>C | |
| NM_001330127.2:c.144A>G (RANGRF) | NP_001317056.1:p.Ile48Met | |
| NM_201520.3:c.*594T>C (SLC25A35) | NP_958928.1:n.*594T>C | |
| NR_135483.2:n.2139T>C (SLC25A35) | ||
| NM_001320872.2:c.*461T>C (SLC25A35) | NP_001307801.1:n.*461T>C | |
| NR_135484.2:n.1975T>C (SLC25A35) |