Linked Data
ClinVar Variation Id:
2788278
ClinVar RCV Id:
RCV003755181
dbSNP Id:
rs750625803
ExAC:
17:8192372 G / T
gnomAD v2:
17-8192372-G-T
gnomAD v3:
17-8289054-G-T
gnomAD v4:
17-8289054-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8289054G>T , CM000679.2:g.8289054G>T | GRCh38 |
| NC_000017.10:g.8192372G>T , CM000679.1:g.8192372G>T | GRCh37 |
| NC_000017.9:g.8133097G>T | NCBI36 |
| NG_028189.1:g.5404G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.176G>T (RANGRF) MANE Select | ENSP00000226105.6:p.Arg59Leu | |
| ENST00000226105.10:c.176G>T (RANGRF) | ENSP00000226105.6:p.Arg59Leu | |
| ENST00000380067.6:c.*562C>A (SLC25A35) | ENSP00000369407.2:n.*562C>A | |
| ENST00000407006.8:c.176G>T (RANGRF) | ENSP00000383940.4:p.Arg59Leu | |
| ENST00000439238.3:c.176G>T (RANGRF) | ENSP00000413190.3:p.Arg59Leu | |
| ENST00000578849.1:n.266G>T (RANGRF) | ||
| ENST00000579192.5:c.*42+520C>A (SLC25A35) | ENSP00000462395.1:n.*42+520C>A | |
| ENST00000580340.5:c.*429C>A (SLC25A35) | ENSP00000464071.1:n.*429C>A | |
| ENST00000580434.5:c.176G>T (RANGRF) | ENSP00000462310.1:p.Arg59Leu | |
| ENST00000580777.1:n.170G>T (RANGRF) | ||
| ENST00000585311.5:c.*474C>A (SLC25A35) | ENSP00000464191.1:n.*474C>A | |
| NM_001177801.1:c.176G>T (RANGRF) | NP_001171272.1:p.Arg59Leu | |
| NM_001177802.1:c.176G>T (RANGRF) | NP_001171273.1:p.Arg59Leu | |
| NM_016492.4:c.176G>T (RANGRF) | NP_057576.2:p.Arg59Leu | |
| NM_201520.1:c.*562C>A (SLC25A35) | NP_958928.1:n.*562C>A | |
| XM_005256618.3:c.176G>T (RANGRF) | XP_005256675.1:p.Arg59Leu | |
| NM_001320871.1:c.*42+520C>A (SLC25A35) | NP_001307800.1:n.*42+520C>A | |
| NM_001320872.1:c.*429C>A (SLC25A35) | NP_001307801.1:n.*429C>A | |
| NM_001330127.1:c.176G>T (RANGRF) | NP_001317056.1:p.Arg59Leu | |
| NM_201520.2:c.*562C>A (SLC25A35) | NP_958928.1:n.*562C>A | |
| NR_135484.1:n.1886C>A (SLC25A35) | ||
| NM_016492.5:c.176G>T (RANGRF) MANE Select | NP_057576.2:p.Arg59Leu | |
| NM_001177801.2:c.176G>T (RANGRF) | NP_001171272.1:p.Arg59Leu | |
| NM_001177802.2:c.176G>T (RANGRF) | NP_001171273.1:p.Arg59Leu | |
| NM_001320871.2:c.*42+520C>A (SLC25A35) | NP_001307800.1:n.*42+520C>A | |
| NM_001330127.2:c.176G>T (RANGRF) | NP_001317056.1:p.Arg59Leu | |
| NM_201520.3:c.*562C>A (SLC25A35) | NP_958928.1:n.*562C>A | |
| NR_135483.2:n.2107C>A (SLC25A35) | ||
| NM_001320872.2:c.*429C>A (SLC25A35) | NP_001307801.1:n.*429C>A | |
| NR_135484.2:n.1943C>A (SLC25A35) |