Linked Data
ClinVar Variation Id:
130066
dbSNP Id:
rs587780426
ExAC:
2:135908022 C / A
gnomAD v2:
2-135908022-C-A
gnomAD v3:
2-135150452-C-A
gnomAD v4:
2-135150452-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135150452C>A , CM000664.2:g.135150452C>A | GRCh38 |
| NC_000002.11:g.135908022C>A , CM000664.1:g.135908022C>A | GRCh37 |
| NC_000002.10:g.135624492C>A | NCBI36 |
| NG_016972.1:g.103188C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.2007C>A (RAB3GAP1) | ENSP00000444306.2:p.His669Gln | |
| ENST00000685967.1:c.*1464C>A (RAB3GAP1) | ENSP00000508423.1:n.*1464C>A | |
| ENST00000686114.1:n.2353C>A (RAB3GAP1) | ||
| ENST00000687199.1:c.*2075C>A (RAB3GAP1) | ENSP00000510319.1:n.*2075C>A | |
| ENST00000687630.1:n.1639C>A (RAB3GAP1) | ||
| ENST00000688088.1:n.2026C>A (RAB3GAP1) | ||
| ENST00000688182.1:c.151-17241C>A (RAB3GAP1) | ENSP00000509324.1:n.151-17241C>A | |
| ENST00000689880.1:n.2026C>A (RAB3GAP1) | ||
| ENST00000690208.1:c.*1685C>A (RAB3GAP1) | ENSP00000510746.1:n.*1685C>A | |
| ENST00000690785.1:n.2026C>A (RAB3GAP1) | ||
| ENST00000691339.1:c.*1630C>A (RAB3GAP1) | ENSP00000509953.1:n.*1630C>A | |
| ENST00000691478.1:c.*2106C>A (RAB3GAP1) | ENSP00000509081.1:n.*2106C>A | |
| ENST00000693554.1:c.2007C>A (RAB3GAP1) | ENSP00000509030.1:p.His669Gln | |
| ENST00000264158.13:c.2007C>A (RAB3GAP1) MANE Select | ENSP00000264158.8:p.His669Gln | |
| ENST00000264158.12:c.2007C>A (RAB3GAP1) | ENSP00000264158.7:p.His669Gln | |
| ENST00000412849.5:n.2140+2409G>T (ZRANB3) | ||
| ENST00000442034.5:c.2007C>A (RAB3GAP1) | ENSP00000411418.1:p.His669Gln | |
| ENST00000487003.5:n.2076C>A (RAB3GAP1) | ||
| ENST00000539493.2:c.1875C>A (RAB3GAP1) | ENSP00000444306.1:p.His625Gln | |
| ENST00000619650.4:c.*179+2409G>T (ZRANB3) | ENSP00000480120.1:n.*179+2409G>T | |
| NM_001172435.1:c.2007C>A (RAB3GAP1) | NP_001165906.1:p.His669Gln | |
| NM_012233.2:c.2007C>A (RAB3GAP1) | NP_036365.1:p.His669Gln | |
| XM_011510822.1:c.2007C>A (RAB3GAP1) | XP_011509124.1:p.His669Gln | |
| XM_011510823.1:c.2007C>A (RAB3GAP1) | XP_011509125.1:p.His669Gln | |
| XM_011510824.1:c.2007C>A (RAB3GAP1) | XP_011509126.1:p.His669Gln | |
| XM_011510825.1:c.2007C>A (RAB3GAP1) | XP_011509127.1:p.His669Gln | |
| XM_011510823.3:c.2007C>A (RAB3GAP1) | XP_011509125.1:p.His669Gln | |
| XM_011510825.3:c.2007C>A (RAB3GAP1) | XP_011509127.1:p.His669Gln | |
| XR_001738674.2:n.2034C>A (RAB3GAP1) | ||
| NM_001172435.2:c.2007C>A (RAB3GAP1) | NP_001165906.1:p.His669Gln | |
| NM_012233.3:c.2007C>A (RAB3GAP1) MANE Select | NP_036365.1:p.His669Gln |