Linked Data
ClinVar Variation Id:
2511104
ClinVar RCV Id:
RCV004288424
dbSNP Id:
rs142878680
ExAC:
19:41285977 C / G
gnomAD v2:
19-41285977-C-G
gnomAD v3:
19-40780072-C-G
gnomAD v4:
19-40780072-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40780072C>G , CM000681.2:g.40780072C>G | GRCh38 |
| NC_000019.9:g.41285977C>G , CM000681.1:g.41285977C>G | GRCh37 |
| NC_000019.8:g.45977817C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357052.8:c.70C>G (RAB4B) MANE Select | ENSP00000349560.2:p.Leu24Val | |
| ENST00000594136.2:c.70C>G (RAB4B-EGLN2) | ENSP00000469872.1:p.Leu24Val | |
| ENST00000596216.2:n.2C>G (RAB4B-EGLN2) | ||
| ENST00000600729.2:c.*30C>G (MIA-RAB4B) | ENSP00000472384.1:n.*30C>G | |
| ENST00000357052.7:c.70C>G (RAB4B) | ENSP00000349560.2:p.Leu24Val | |
| ENST00000378307.9:c.70C>G (RAB4B) | ENSP00000367557.4:p.Leu24Val | |
| ENST00000594136.1:c.70C>G (RAB4B-EGLN2) | ENSP00000469872.1:p.Leu24Val | |
| ENST00000594800.5:c.70C>G (RAB4B) | ENSP00000470246.1:p.Leu24Val | |
| ENST00000597476.5:n.1026C>G (RAB4B) | ||
| ENST00000600078.5:n.172C>G (RAB4B) | ||
| ENST00000600729.1:c.*30C>G (MIA-RAB4B) | ENSP00000472384.1:n.*30C>G | |
| ENST00000601949.5:n.150+1681C>G (RAB4B-EGLN2) | ||
| ENST00000602069.5:n.196C>G (RAB4B) | ||
| ENST00000602173.5:c.68C>G (RAB4B) | ||
| NM_016154.4:c.70C>G (RAB4B) | NP_057238.3:p.Leu24Val | |
| NR_037775.1:n.432C>G (MIA-RAB4B) | ||
| NR_037791.1:n.227C>G (RAB4B-EGLN2) | ||
| NM_016154.5:c.70C>G (RAB4B) MANE Select | NP_057238.3:p.Leu24Val |