Linked Data
ClinVar Variation Id:
3150811
ClinVar RCV Id:
RCV004443218
dbSNP Id:
rs201478253
ExAC:
19:41292809 C / T
gnomAD v2:
19-41292809-C-T
gnomAD v3:
19-40786904-C-T
gnomAD v4:
19-40786904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40786904C>T , CM000681.2:g.40786904C>T | GRCh38 |
| NC_000019.9:g.41292809C>T , CM000681.1:g.41292809C>T | GRCh37 |
| NC_000019.8:g.45984649C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357052.8:c.583C>T (RAB4B) MANE Select | ENSP00000349560.2:p.Arg195Cys | |
| ENST00000594136.2:c.583C>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Arg195Cys | |
| ENST00000596216.2:n.800C>T (RAB4B-EGLN2) | ||
| ENST00000600729.2:c.*543C>T (MIA-RAB4B) | ENSP00000472384.1:n.*543C>T | |
| ENST00000357052.7:c.583C>T (RAB4B) | ENSP00000349560.2:p.Arg195Cys | |
| ENST00000378307.9:c.*62C>T (RAB4B) | ENSP00000367557.4:n.*62C>T | |
| ENST00000594136.1:c.583C>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Arg195Cys | |
| ENST00000594800.5:c.583C>T (RAB4B) | ENSP00000470246.1:p.Arg195Cys | |
| ENST00000596216.1:n.492C>T (RAB4B-EGLN2) | ||
| ENST00000597476.5:n.1539C>T (RAB4B) | ||
| ENST00000598430.1:n.1285C>T (RAB4B) | ||
| ENST00000601949.5:n.303C>T (RAB4B-EGLN2) | ||
| ENST00000602173.5:c.518C>T (RAB4B) | ||
| NM_016154.4:c.583C>T (RAB4B) | NP_057238.3:p.Arg195Cys | |
| NR_037775.1:n.945C>T (MIA-RAB4B) | ||
| NR_037791.1:n.740C>T (RAB4B-EGLN2) | ||
| NM_016154.5:c.583C>T (RAB4B) MANE Select | NP_057238.3:p.Arg195Cys |