Linked Data
ClinVar Variation Id:
944744
ClinVar RCV Id:
RCV001841186
dbSNP Id:
rs1322326186
gnomAD v2:
17-8192339-T-C
gnomAD v3:
17-8289021-T-C
gnomAD v4:
17-8289021-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8289021T>C , CM000679.2:g.8289021T>C | GRCh38 |
| NC_000017.10:g.8192339T>C , CM000679.1:g.8192339T>C | GRCh37 |
| NC_000017.9:g.8133064T>C | NCBI36 |
| NG_028189.1:g.5371T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.143T>C (RANGRF) MANE Select | ENSP00000226105.6:p.Ile48Thr | |
| ENST00000226105.10:c.143T>C (RANGRF) | ENSP00000226105.6:p.Ile48Thr | |
| ENST00000380067.6:c.*595A>G (SLC25A35) | ENSP00000369407.2:n.*595A>G | |
| ENST00000407006.8:c.143T>C (RANGRF) | ENSP00000383940.4:p.Ile48Thr | |
| ENST00000439238.3:c.143T>C (RANGRF) | ENSP00000413190.3:p.Ile48Thr | |
| ENST00000578849.1:n.233T>C (RANGRF) | ||
| ENST00000579192.5:c.*42+553A>G (SLC25A35) | ENSP00000462395.1:n.*42+553A>G | |
| ENST00000580340.5:c.*462A>G (SLC25A35) | ENSP00000464071.1:n.*462A>G | |
| ENST00000580434.5:c.143T>C (RANGRF) | ENSP00000462310.1:p.Ile48Thr | |
| ENST00000580777.1:n.137T>C (RANGRF) | ||
| ENST00000581320.1:n.15A>G (SLC25A35) | ||
| ENST00000585311.5:c.*507A>G (SLC25A35) | ENSP00000464191.1:n.*507A>G | |
| NM_001177801.1:c.143T>C (RANGRF) | NP_001171272.1:p.Ile48Thr | |
| NM_001177802.1:c.143T>C (RANGRF) | NP_001171273.1:p.Ile48Thr | |
| NM_016492.4:c.143T>C (RANGRF) | NP_057576.2:p.Ile48Thr | |
| NM_201520.1:c.*595A>G (SLC25A35) | NP_958928.1:n.*595A>G | |
| XM_005256618.3:c.143T>C (RANGRF) | XP_005256675.1:p.Ile48Thr | |
| NM_001320871.1:c.*42+553A>G (SLC25A35) | NP_001307800.1:n.*42+553A>G | |
| NM_001320872.1:c.*462A>G (SLC25A35) | NP_001307801.1:n.*462A>G | |
| NM_001330127.1:c.143T>C (RANGRF) | NP_001317056.1:p.Ile48Thr | |
| NM_201520.2:c.*595A>G (SLC25A35) | NP_958928.1:n.*595A>G | |
| NR_135484.1:n.1919A>G (SLC25A35) | ||
| NM_016492.5:c.143T>C (RANGRF) MANE Select | NP_057576.2:p.Ile48Thr | |
| NM_001177801.2:c.143T>C (RANGRF) | NP_001171272.1:p.Ile48Thr | |
| NM_001177802.2:c.143T>C (RANGRF) | NP_001171273.1:p.Ile48Thr | |
| NM_001320871.2:c.*42+553A>G (SLC25A35) | NP_001307800.1:n.*42+553A>G | |
| NM_001330127.2:c.143T>C (RANGRF) | NP_001317056.1:p.Ile48Thr | |
| NM_201520.3:c.*595A>G (SLC25A35) | NP_958928.1:n.*595A>G | |
| NR_135483.2:n.2140A>G (SLC25A35) | ||
| NM_001320872.2:c.*462A>G (SLC25A35) | NP_001307801.1:n.*462A>G | |
| NR_135484.2:n.1976A>G (SLC25A35) |