Linked Data
ClinVar Variation Id:
7059
ClinVar RCV Id:
RCV000007475
dbSNP Id:
rs137853052
gnomAD v4:
2-135150456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135150456C>T , CM000664.2:g.135150456C>T | GRCh38 |
| NC_000002.11:g.135908026C>T , CM000664.1:g.135908026C>T | GRCh37 |
| NC_000002.10:g.135624496C>T | NCBI36 |
| NG_016972.1:g.103192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.2011C>T (RAB3GAP1) | ENSP00000444306.2:p.Arg671Ter | |
| ENST00000685967.1:c.*1468C>T (RAB3GAP1) | ENSP00000508423.1:n.*1468C>T | |
| ENST00000686114.1:n.2357C>T (RAB3GAP1) | ||
| ENST00000687199.1:c.*2079C>T (RAB3GAP1) | ENSP00000510319.1:n.*2079C>T | |
| ENST00000687630.1:n.1643C>T (RAB3GAP1) | ||
| ENST00000688088.1:n.2030C>T (RAB3GAP1) | ||
| ENST00000688182.1:c.151-17237C>T (RAB3GAP1) | ENSP00000509324.1:n.151-17237C>T | |
| ENST00000689880.1:n.2030C>T (RAB3GAP1) | ||
| ENST00000690208.1:c.*1689C>T (RAB3GAP1) | ENSP00000510746.1:n.*1689C>T | |
| ENST00000690785.1:n.2030C>T (RAB3GAP1) | ||
| ENST00000691339.1:c.*1634C>T (RAB3GAP1) | ENSP00000509953.1:n.*1634C>T | |
| ENST00000691478.1:c.*2110C>T (RAB3GAP1) | ENSP00000509081.1:n.*2110C>T | |
| ENST00000693554.1:c.2011C>T (RAB3GAP1) | ENSP00000509030.1:p.Arg671Ter | |
| ENST00000264158.13:c.2011C>T (RAB3GAP1) MANE Select | ENSP00000264158.8:p.Arg671Ter | |
| ENST00000264158.12:c.2011C>T (RAB3GAP1) | ENSP00000264158.7:p.Arg671Ter | |
| ENST00000412849.5:n.2140+2405G>A (ZRANB3) | ||
| ENST00000442034.5:c.2011C>T (RAB3GAP1) | ENSP00000411418.1:p.Arg671Ter | |
| ENST00000487003.5:n.2080C>T (RAB3GAP1) | ||
| ENST00000539493.2:c.1879C>T (RAB3GAP1) | ENSP00000444306.1:p.Arg627Ter | |
| ENST00000619650.4:c.*179+2405G>A (ZRANB3) | ENSP00000480120.1:n.*179+2405G>A | |
| NM_001172435.1:c.2011C>T (RAB3GAP1) | NP_001165906.1:p.Arg671Ter | |
| NM_012233.2:c.2011C>T (RAB3GAP1) | NP_036365.1:p.Arg671Ter | |
| XM_011510822.1:c.2011C>T (RAB3GAP1) | XP_011509124.1:p.Arg671Ter | |
| XM_011510823.1:c.2011C>T (RAB3GAP1) | XP_011509125.1:p.Arg671Ter | |
| XM_011510824.1:c.2011C>T (RAB3GAP1) | XP_011509126.1:p.Arg671Ter | |
| XM_011510825.1:c.2011C>T (RAB3GAP1) | XP_011509127.1:p.Arg671Ter | |
| XM_011510823.3:c.2011C>T (RAB3GAP1) | XP_011509125.1:p.Arg671Ter | |
| XM_011510825.3:c.2011C>T (RAB3GAP1) | XP_011509127.1:p.Arg671Ter | |
| XR_001738674.2:n.2038C>T (RAB3GAP1) | ||
| NM_001172435.2:c.2011C>T (RAB3GAP1) | NP_001165906.1:p.Arg671Ter | |
| NM_012233.3:c.2011C>T (RAB3GAP1) MANE Select | NP_036365.1:p.Arg671Ter |