Linked Data
ClinVar Variation Id:
3150810
ClinVar RCV Id:
RCV004443217
dbSNP Id:
rs759985564
ExAC:
19:41292638 C / T
gnomAD v2:
19-41292638-C-T
gnomAD v3:
19-40786733-C-T
gnomAD v4:
19-40786733-C-T
COSMIC:
COSM3226262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40786733C>T , CM000681.2:g.40786733C>T | GRCh38 |
| NC_000019.9:g.41292638C>T , CM000681.1:g.41292638C>T | GRCh37 |
| NC_000019.8:g.45984478C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357052.8:c.499C>T (RAB4B) MANE Select | ENSP00000349560.2:p.Arg167Cys | |
| ENST00000594136.2:c.499C>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Arg167Cys | |
| ENST00000596216.2:n.716C>T (RAB4B-EGLN2) | ||
| ENST00000600729.2:c.*459C>T (MIA-RAB4B) | ENSP00000472384.1:n.*459C>T | |
| ENST00000357052.7:c.499C>T (RAB4B) | ENSP00000349560.2:p.Arg167Cys | |
| ENST00000378307.9:c.344C>T (RAB4B) | ENSP00000367557.4:p.Pro115Leu | |
| ENST00000594136.1:c.499C>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Arg167Cys | |
| ENST00000594800.5:c.499C>T (RAB4B) | ENSP00000470246.1:p.Arg167Cys | |
| ENST00000596216.1:n.408C>T (RAB4B-EGLN2) | ||
| ENST00000597476.5:n.1455C>T (RAB4B) | ||
| ENST00000598430.1:n.1201C>T (RAB4B) | ||
| ENST00000601949.5:n.219C>T (RAB4B-EGLN2) | ||
| ENST00000602069.5:n.560C>T (RAB4B) | ||
| ENST00000602173.5:c.434C>T (RAB4B) | ||
| NM_016154.4:c.499C>T (RAB4B) | NP_057238.3:p.Arg167Cys | |
| NR_037775.1:n.861C>T (MIA-RAB4B) | ||
| NR_037791.1:n.656C>T (RAB4B-EGLN2) | ||
| NM_016154.5:c.499C>T (RAB4B) MANE Select | NP_057238.3:p.Arg167Cys |