Linked Data
ClinVar Variation Id:
347549
ClinVar RCV Id:
RCV000290565
dbSNP Id:
rs886059072
gnomAD v3:
4-139453848-G-C
gnomAD v4:
4-139453848-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139453848G>C , CM000666.2:g.139453848G>C | GRCh38 |
| NC_000004.11:g.140375002G>C , CM000666.1:g.140375002G>C | GRCh37 |
| NC_000004.10:g.140594452G>C | NCBI36 |
| NG_051587.1:g.5617G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652268.1:c.125+151G>C (RAB33B) | ENSP00000498778.1:n.125+151G>C | |
| ENST00000305626.5:c.-348G>C (RAB33B) | ENSP00000306496.5:n.-348G>C | |
| ENST00000507271.1:n.466+151G>C (RAB33B) | ||
| NM_031296.1:c.-348G>C (RAB33B) | NP_112586.1:n.-348G>C | |
| XM_011532299.1:c.125+151G>C (RAB33B) | XP_011530601.1:n.125+151G>C | |
| XR_244727.2:n.340C>G | ||
| XR_939244.1:n.87C>G | ||
| XR_939245.1:n.340C>G | ||
| NM_031296.2:c.-348G>C (RAB33B) | NP_112586.1:n.-348G>C | |
| NR_159963.1:n.194C>G (RAB33B-AS1) | ||
| NR_159964.1:n.194C>G (RAB33B-AS1) |