gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0042614 (AMR)
Genomes Max Group AF
0.00426109 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135170178C>T , CM000664.2:g.135170178C>T | GRCh38 |
| NC_000002.11:g.135927748C>T , CM000664.1:g.135927748C>T | GRCh37 |
| NC_000002.10:g.135644218C>T | NCBI36 |
| NG_016972.1:g.122914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.2914+1429C>T (RAB3GAP1) | ENSP00000444306.2:n.2914+1429C>T | |
| ENST00000685652.1:n.4982C>T (RAB3GAP1) | ||
| ENST00000685967.1:c.*3800C>T (RAB3GAP1) | ENSP00000508423.1:n.*3800C>T | |
| ENST00000687199.1:c.*4432C>T (RAB3GAP1) | ENSP00000510319.1:n.*4432C>T | |
| ENST00000688088.1:n.7525C>T (RAB3GAP1) | ||
| ENST00000690208.1:c.*4021C>T (RAB3GAP1) | ENSP00000510746.1:n.*4021C>T | |
| ENST00000691339.1:c.*3987C>T (RAB3GAP1) | ENSP00000509953.1:n.*3987C>T | |
| ENST00000691478.1:c.*4442C>T (RAB3GAP1) | ENSP00000509081.1:n.*4442C>T | |
| ENST00000692993.1:n.1922C>T (RAB3GAP1) | ||
| ENST00000693554.1:c.*2166C>T (RAB3GAP1) | ENSP00000509030.1:n.*2166C>T | |
| ENST00000264158.13:c.*1397C>T (RAB3GAP1) MANE Select | ENSP00000264158.8:n.*1397C>T | |
| ENST00000264158.12:c.*1397C>T (RAB3GAP1) | ENSP00000264158.7:n.*1397C>T | |
| ENST00000412849.5:n.1782-5024G>A (ZRANB3) | ||
| ENST00000487003.5:n.3098+330C>T (RAB3GAP1) | ||
| ENST00000539493.2:c.2897+330C>T (RAB3GAP1) | ENSP00000444306.1:n.2897+330C>T | |
| ENST00000619650.4:c.1618-5024G>A (ZRANB3) | ENSP00000480120.1:n.1618-5024G>A | |
| NM_001172435.1:c.*1397C>T (RAB3GAP1) | NP_001165906.1:n.*1397C>T | |
| NM_012233.2:c.*1397C>T (RAB3GAP1) | NP_036365.1:n.*1397C>T | |
| XM_011510822.1:c.2935+1429C>T (RAB3GAP1) | XP_011509124.1:n.2935+1429C>T | |
| XM_011510823.1:c.2914+1429C>T (RAB3GAP1) | XP_011509125.1:n.2914+1429C>T | |
| XM_011510824.1:c.*419C>T (RAB3GAP1) | XP_011509126.1:n.*419C>T | |
| XM_011510825.1:c.*419C>T (RAB3GAP1) | XP_011509127.1:n.*419C>T | |
| XM_011510823.3:c.2914+1429C>T (RAB3GAP1) | XP_011509125.1:n.2914+1429C>T | |
| XM_011510825.3:c.*419C>T (RAB3GAP1) | XP_011509127.1:n.*419C>T | |
| XM_011511966.3:c.3049-5024G>A (ZRANB3) | XP_011510268.2:n.3049-5024G>A | |
| XR_001738674.2:n.2941+1429C>T (RAB3GAP1) | ||
| NM_001172435.2:c.*1397C>T (RAB3GAP1) | NP_001165906.1:n.*1397C>T | |
| NM_012233.3:c.*1397C>T (RAB3GAP1) MANE Select | NP_036365.1:n.*1397C>T |