Linked Data
ClinVar Variation Id:
347551
ClinVar RCV Id:
RCV000396529
dbSNP Id:
rs886059074
gnomAD v2:
4-140375095-C-T
gnomAD v3:
4-139453941-C-T
gnomAD v4:
4-139453941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139453941C>T , CM000666.2:g.139453941C>T | GRCh38 |
| NC_000004.11:g.140375095C>T , CM000666.1:g.140375095C>T | GRCh37 |
| NC_000004.10:g.140594545C>T | NCBI36 |
| NG_051587.1:g.5710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652268.1:c.126-236C>T (RAB33B) | ENSP00000498778.1:n.126-236C>T | |
| ENST00000305626.5:c.-255C>T (RAB33B) | ENSP00000306496.5:n.-255C>T | |
| ENST00000507271.1:n.467-236C>T (RAB33B) | ||
| NM_031296.1:c.-255C>T (RAB33B) | NP_112586.1:n.-255C>T | |
| XM_011532299.1:c.126-236C>T (RAB33B) | XP_011530601.1:n.126-236C>T | |
| XR_244727.2:n.247G>A | ||
| XR_939245.1:n.247G>A | ||
| NM_031296.2:c.-255C>T (RAB33B) | NP_112586.1:n.-255C>T | |
| NR_159963.1:n.101G>A (RAB33B-AS1) | ||
| NR_159964.1:n.101G>A (RAB33B-AS1) |