Linked Data
dbSNP Id:
rs1345611108
gnomAD v2:
17-8191964-G-A
gnomAD v3:
17-8288646-G-A
gnomAD v4:
17-8288646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288646G>A , CM000679.2:g.8288646G>A | GRCh38 |
| NC_000017.10:g.8191964G>A , CM000679.1:g.8191964G>A | GRCh37 |
| NC_000017.9:g.8132689G>A | NCBI36 |
| NG_028189.1:g.4996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.10:c.-143G>A (RANGRF) | ENSP00000226105.6:n.-143G>A | |
| ENST00000380067.6:c.*970C>T (SLC25A35) | ENSP00000369407.2:n.*970C>T | |
| ENST00000579192.5:c.*43-214C>T (SLC25A35) | ENSP00000462395.1:n.*43-214C>T | |
| ENST00000581320.1:n.91-214C>T (SLC25A35) | ||
| NM_201520.1:c.*970C>T (SLC25A35) | NP_958928.1:n.*970C>T | |
| XM_005256618.3:c.-143G>A (RANGRF) | XP_005256675.1:n.-143G>A | |
| NM_001320871.1:c.*43-214C>T (SLC25A35) | NP_001307800.1:n.*43-214C>T | |
| NM_001330127.1:c.-143G>A (RANGRF) | NP_001317056.1:n.-143G>A | |
| NM_201520.2:c.*970C>T (SLC25A35) | NP_958928.1:n.*970C>T | |
| NM_001320871.2:c.*43-214C>T (SLC25A35) | NP_001307800.1:n.*43-214C>T | |
| NM_201520.3:c.*970C>T (SLC25A35) | NP_958928.1:n.*970C>T | |
| NR_135483.2:n.2515C>T (SLC25A35) |