Linked Data
ClinVar Variation Id:
211979
ClinVar RCV Id:
RCV000194301
dbSNP Id:
rs797045905
PubMed:
PMID:26138576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135164629T>G , CM000664.2:g.135164629T>G | GRCh38 |
| NC_000002.11:g.135922199T>G , CM000664.1:g.135922199T>G | GRCh37 |
| NC_000002.10:g.135638669T>G | NCBI36 |
| NG_016972.1:g.117365T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.2642T>G (RAB3GAP1) | ENSP00000444306.2:p.Leu881Ter | |
| ENST00000684914.1:n.968T>G (RAB3GAP1) | ||
| ENST00000685652.1:n.3281T>G (RAB3GAP1) | ||
| ENST00000685967.1:c.*2099T>G (RAB3GAP1) | ENSP00000508423.1:n.*2099T>G | |
| ENST00000687199.1:c.*2710T>G (RAB3GAP1) | ENSP00000510319.1:n.*2710T>G | |
| ENST00000688088.1:n.5803T>G (RAB3GAP1) | ||
| ENST00000688182.1:c.151-3064T>G (RAB3GAP1) | ENSP00000509324.1:n.151-3064T>G | |
| ENST00000689187.1:n.2208T>G (RAB3GAP1) | ||
| ENST00000690208.1:c.*2320T>G (RAB3GAP1) | ENSP00000510746.1:n.*2320T>G | |
| ENST00000690785.1:n.2661T>G (RAB3GAP1) | ||
| ENST00000691339.1:c.*2265T>G (RAB3GAP1) | ENSP00000509953.1:n.*2265T>G | |
| ENST00000691478.1:c.*2741T>G (RAB3GAP1) | ENSP00000509081.1:n.*2741T>G | |
| ENST00000692993.1:n.200T>G (RAB3GAP1) | ||
| ENST00000693554.1:c.*444T>G (RAB3GAP1) | ENSP00000509030.1:n.*444T>G | |
| ENST00000264158.13:c.2642T>G (RAB3GAP1) MANE Select | ENSP00000264158.8:p.Leu881Ter | |
| ENST00000264158.12:c.2642T>G (RAB3GAP1) | ENSP00000264158.7:p.Leu881Ter | |
| ENST00000412849.5:n.1793+514A>C (ZRANB3) | ||
| ENST00000442034.5:c.2642T>G (RAB3GAP1) | ENSP00000411418.1:p.Leu881Ter | |
| ENST00000487003.5:n.2711T>G (RAB3GAP1) | ||
| ENST00000539493.2:c.2510T>G (RAB3GAP1) | ENSP00000444306.1:p.Leu837Ter | |
| ENST00000619650.4:c.1629+514A>C (ZRANB3) | ENSP00000480120.1:n.1629+514A>C | |
| NM_001172435.1:c.2642T>G (RAB3GAP1) | NP_001165906.1:p.Leu881Ter | |
| NM_012233.2:c.2642T>G (RAB3GAP1) | NP_036365.1:p.Leu881Ter | |
| XM_011510822.1:c.2642T>G (RAB3GAP1) | XP_011509124.1:p.Leu881Ter | |
| XM_011510823.1:c.2642T>G (RAB3GAP1) | XP_011509125.1:p.Leu881Ter | |
| XM_011510824.1:c.2642T>G (RAB3GAP1) | XP_011509126.1:p.Leu881Ter | |
| XM_011510825.1:c.2642T>G (RAB3GAP1) | XP_011509127.1:p.Leu881Ter | |
| XM_011510823.3:c.2642T>G (RAB3GAP1) | XP_011509125.1:p.Leu881Ter | |
| XM_011510825.3:c.2642T>G (RAB3GAP1) | XP_011509127.1:p.Leu881Ter | |
| XM_011511966.3:c.*457A>C (ZRANB3) | XP_011510268.2:n.*457A>C | |
| XR_001738674.2:n.2669T>G (RAB3GAP1) | ||
| NM_001172435.2:c.2642T>G (RAB3GAP1) | NP_001165906.1:p.Leu881Ter | |
| NM_012233.3:c.2642T>G (RAB3GAP1) MANE Select | NP_036365.1:p.Leu881Ter |