Linked Data
ClinVar Variation Id:
2401134
ClinVar RCV Id:
RCV004240689
dbSNP Id:
rs746199030
ExAC:
19:41292853 G / T
gnomAD v2:
19-41292853-G-T
gnomAD v3:
19-40786948-G-T
gnomAD v4:
19-40786948-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40786948G>T , CM000681.2:g.40786948G>T | GRCh38 |
| NC_000019.9:g.41292853G>T , CM000681.1:g.41292853G>T | GRCh37 |
| NC_000019.8:g.45984693G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357052.8:c.627G>T (RAB4B) MANE Select | ENSP00000349560.2:p.Gln209His | |
| ENST00000594136.2:c.627G>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Gln209His | |
| ENST00000596216.2:n.844G>T (RAB4B-EGLN2) | ||
| ENST00000600729.2:c.*587G>T (MIA-RAB4B) | ENSP00000472384.1:n.*587G>T | |
| ENST00000357052.7:c.627G>T (RAB4B) | ENSP00000349560.2:p.Gln209His | |
| ENST00000378307.9:c.*106G>T (RAB4B) | ENSP00000367557.4:n.*106G>T | |
| ENST00000594136.1:c.627G>T (RAB4B-EGLN2) | ENSP00000469872.1:p.Gln209His | |
| ENST00000594800.5:c.627G>T (RAB4B) | ENSP00000470246.1:p.Gln209His | |
| ENST00000596216.1:n.536G>T (RAB4B-EGLN2) | ||
| ENST00000597476.5:n.1583G>T (RAB4B) | ||
| ENST00000598430.1:n.1329G>T (RAB4B) | ||
| ENST00000601949.5:n.347G>T (RAB4B-EGLN2) | ||
| ENST00000602173.5:c.562G>T (RAB4B) | ||
| NM_016154.4:c.627G>T (RAB4B) | NP_057238.3:p.Gln209His | |
| NR_037775.1:n.989G>T (MIA-RAB4B) | ||
| NR_037791.1:n.784G>T (RAB4B-EGLN2) | ||
| NM_016154.5:c.627G>T (RAB4B) MANE Select | NP_057238.3:p.Gln209His |