Linked Data
dbSNP Id:
rs994122803
gnomAD v2:
17-8192003-C-T
gnomAD v3:
17-8288685-C-T
gnomAD v4:
17-8288685-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288685C>T , CM000679.2:g.8288685C>T | GRCh38 |
| NC_000017.10:g.8192003C>T , CM000679.1:g.8192003C>T | GRCh37 |
| NC_000017.9:g.8132728C>T | NCBI36 |
| NG_028189.1:g.5035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.-104C>T (RANGRF) MANE Select | ENSP00000226105.6:n.-104C>T | |
| ENST00000226105.10:c.-104C>T (RANGRF) | ENSP00000226105.6:n.-104C>T | |
| ENST00000380067.6:c.*931G>A (SLC25A35) | ENSP00000369407.2:n.*931G>A | |
| ENST00000407006.8:c.-104C>T (RANGRF) | ENSP00000383940.4:n.-104C>T | |
| ENST00000439238.3:c.-104C>T (RANGRF) | ENSP00000413190.3:n.-104C>T | |
| ENST00000579192.5:c.*43-253G>A (SLC25A35) | ENSP00000462395.1:n.*43-253G>A | |
| ENST00000580434.5:c.-104C>T (RANGRF) | ENSP00000462310.1:n.-104C>T | |
| ENST00000581320.1:n.91-253G>A (SLC25A35) | ||
| NM_001177801.1:c.-104C>T (RANGRF) | NP_001171272.1:n.-104C>T | |
| NM_001177802.1:c.-104C>T (RANGRF) | NP_001171273.1:n.-104C>T | |
| NM_016492.4:c.-104C>T (RANGRF) | NP_057576.2:n.-104C>T | |
| NM_201520.1:c.*931G>A (SLC25A35) | NP_958928.1:n.*931G>A | |
| XM_005256618.3:c.-104C>T (RANGRF) | XP_005256675.1:n.-104C>T | |
| NM_001320871.1:c.*43-253G>A (SLC25A35) | NP_001307800.1:n.*43-253G>A | |
| NM_001330127.1:c.-104C>T (RANGRF) | NP_001317056.1:n.-104C>T | |
| NM_201520.2:c.*931G>A (SLC25A35) | NP_958928.1:n.*931G>A | |
| NM_016492.5:c.-104C>T (RANGRF) MANE Select | NP_057576.2:n.-104C>T | |
| NM_001177801.2:c.-104C>T (RANGRF) | NP_001171272.1:n.-104C>T | |
| NM_001177802.2:c.-104C>T (RANGRF) | NP_001171273.1:n.-104C>T | |
| NM_001320871.2:c.*43-253G>A (SLC25A35) | NP_001307800.1:n.*43-253G>A | |
| NM_001330127.2:c.-104C>T (RANGRF) | NP_001317056.1:n.-104C>T | |
| NM_201520.3:c.*931G>A (SLC25A35) | NP_958928.1:n.*931G>A | |
| NR_135483.2:n.2476G>A (SLC25A35) |