Linked Data
dbSNP Id:
rs778425705
ExAC:
17:8192079 C / A
gnomAD v2:
17-8192079-C-A
gnomAD v4:
17-8288761-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288761C>A , CM000679.2:g.8288761C>A | GRCh38 |
| NC_000017.10:g.8192079C>A , CM000679.1:g.8192079C>A | GRCh37 |
| NC_000017.9:g.8132804C>A | NCBI36 |
| NG_028189.1:g.5111C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.-28C>A (RANGRF) MANE Select | ENSP00000226105.6:n.-28C>A | |
| ENST00000226105.10:c.-28C>A (RANGRF) | ENSP00000226105.6:n.-28C>A | |
| ENST00000380067.6:c.*855G>T (SLC25A35) | ENSP00000369407.2:n.*855G>T | |
| ENST00000407006.8:c.-28C>A (RANGRF) | ENSP00000383940.4:n.-28C>A | |
| ENST00000439238.3:c.-28C>A (RANGRF) | ENSP00000413190.3:n.-28C>A | |
| ENST00000578849.1:n.63C>A (RANGRF) | ||
| ENST00000579192.5:c.*43-329G>T (SLC25A35) | ENSP00000462395.1:n.*43-329G>T | |
| ENST00000580434.5:c.-28C>A (RANGRF) | ENSP00000462310.1:n.-28C>A | |
| ENST00000581320.1:n.90+185G>T (SLC25A35) | ||
| NM_001177801.1:c.-28C>A (RANGRF) | NP_001171272.1:n.-28C>A | |
| NM_001177802.1:c.-28C>A (RANGRF) | NP_001171273.1:n.-28C>A | |
| NM_016492.4:c.-28C>A (RANGRF) | NP_057576.2:n.-28C>A | |
| NM_201520.1:c.*855G>T (SLC25A35) | NP_958928.1:n.*855G>T | |
| XM_005256618.3:c.-28C>A (RANGRF) | XP_005256675.1:n.-28C>A | |
| NM_001320871.1:c.*43-329G>T (SLC25A35) | NP_001307800.1:n.*43-329G>T | |
| NM_001330127.1:c.-28C>A (RANGRF) | NP_001317056.1:n.-28C>A | |
| NM_201520.2:c.*855G>T (SLC25A35) | NP_958928.1:n.*855G>T | |
| NM_016492.5:c.-28C>A (RANGRF) MANE Select | NP_057576.2:n.-28C>A | |
| NM_001177801.2:c.-28C>A (RANGRF) | NP_001171272.1:n.-28C>A | |
| NM_001177802.2:c.-28C>A (RANGRF) | NP_001171273.1:n.-28C>A | |
| NM_001320871.2:c.*43-329G>T (SLC25A35) | NP_001307800.1:n.*43-329G>T | |
| NM_001330127.2:c.-28C>A (RANGRF) | NP_001317056.1:n.-28C>A | |
| NM_201520.3:c.*855G>T (SLC25A35) | NP_958928.1:n.*855G>T | |
| NR_135483.2:n.2400G>T (SLC25A35) |