Linked Data
dbSNP Id:
rs574744699
gnomAD v2:
17-8191975-T-C
gnomAD v3:
17-8288657-T-C
gnomAD v4:
17-8288657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288657T>C , CM000679.2:g.8288657T>C | GRCh38 |
| NC_000017.10:g.8191975T>C , CM000679.1:g.8191975T>C | GRCh37 |
| NC_000017.9:g.8132700T>C | NCBI36 |
| NG_028189.1:g.5007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.10:c.-132T>C (RANGRF) | ENSP00000226105.6:n.-132T>C | |
| ENST00000380067.6:c.*959A>G (SLC25A35) | ENSP00000369407.2:n.*959A>G | |
| ENST00000407006.8:c.-132T>C (RANGRF) | ENSP00000383940.4:n.-132T>C | |
| ENST00000579192.5:c.*43-225A>G (SLC25A35) | ENSP00000462395.1:n.*43-225A>G | |
| ENST00000581320.1:n.91-225A>G (SLC25A35) | ||
| NM_001177801.1:c.-132T>C (RANGRF) | NP_001171272.1:n.-132T>C | |
| NM_001177802.1:c.-132T>C (RANGRF) | NP_001171273.1:n.-132T>C | |
| NM_016492.4:c.-132T>C (RANGRF) | NP_057576.2:n.-132T>C | |
| NM_201520.1:c.*959A>G (SLC25A35) | NP_958928.1:n.*959A>G | |
| XM_005256618.3:c.-132T>C (RANGRF) | XP_005256675.1:n.-132T>C | |
| NM_001320871.1:c.*43-225A>G (SLC25A35) | NP_001307800.1:n.*43-225A>G | |
| NM_001330127.1:c.-132T>C (RANGRF) | NP_001317056.1:n.-132T>C | |
| NM_201520.2:c.*959A>G (SLC25A35) | NP_958928.1:n.*959A>G | |
| NM_001320871.2:c.*43-225A>G (SLC25A35) | NP_001307800.1:n.*43-225A>G | |
| NM_201520.3:c.*959A>G (SLC25A35) | NP_958928.1:n.*959A>G | |
| NR_135483.2:n.2504A>G (SLC25A35) |