Linked Data
ClinVar Variation Id:
331149
ClinVar RCV Id:
RCV000276534
dbSNP Id:
rs59746814
gnomAD v2:
2-135927729-T-C
gnomAD v3:
2-135170159-T-C
gnomAD v4:
2-135170159-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135170159T>C , CM000664.2:g.135170159T>C | GRCh38 |
| NC_000002.11:g.135927729T>C , CM000664.1:g.135927729T>C | GRCh37 |
| NC_000002.10:g.135644199T>C | NCBI36 |
| NG_016972.1:g.122895T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.2914+1410T>C (RAB3GAP1) | ENSP00000444306.2:n.2914+1410T>C | |
| ENST00000685652.1:n.4963T>C (RAB3GAP1) | ||
| ENST00000685967.1:c.*3781T>C (RAB3GAP1) | ENSP00000508423.1:n.*3781T>C | |
| ENST00000687199.1:c.*4413T>C (RAB3GAP1) | ENSP00000510319.1:n.*4413T>C | |
| ENST00000688088.1:n.7506T>C (RAB3GAP1) | ||
| ENST00000690208.1:c.*4002T>C (RAB3GAP1) | ENSP00000510746.1:n.*4002T>C | |
| ENST00000691339.1:c.*3968T>C (RAB3GAP1) | ENSP00000509953.1:n.*3968T>C | |
| ENST00000691478.1:c.*4423T>C (RAB3GAP1) | ENSP00000509081.1:n.*4423T>C | |
| ENST00000692993.1:n.1903T>C (RAB3GAP1) | ||
| ENST00000693554.1:c.*2147T>C (RAB3GAP1) | ENSP00000509030.1:n.*2147T>C | |
| ENST00000264158.13:c.*1378T>C (RAB3GAP1) MANE Select | ENSP00000264158.8:n.*1378T>C | |
| ENST00000264158.12:c.*1378T>C (RAB3GAP1) | ENSP00000264158.7:n.*1378T>C | |
| ENST00000412849.5:n.1782-5005A>G (ZRANB3) | ||
| ENST00000487003.5:n.3098+311T>C (RAB3GAP1) | ||
| ENST00000539493.2:c.2897+311T>C (RAB3GAP1) | ENSP00000444306.1:n.2897+311T>C | |
| ENST00000619650.4:c.1618-5005A>G (ZRANB3) | ENSP00000480120.1:n.1618-5005A>G | |
| NM_001172435.1:c.*1378T>C (RAB3GAP1) | NP_001165906.1:n.*1378T>C | |
| NM_012233.2:c.*1378T>C (RAB3GAP1) | NP_036365.1:n.*1378T>C | |
| XM_011510822.1:c.2935+1410T>C (RAB3GAP1) | XP_011509124.1:n.2935+1410T>C | |
| XM_011510823.1:c.2914+1410T>C (RAB3GAP1) | XP_011509125.1:n.2914+1410T>C | |
| XM_011510824.1:c.*400T>C (RAB3GAP1) | XP_011509126.1:n.*400T>C | |
| XM_011510825.1:c.*400T>C (RAB3GAP1) | XP_011509127.1:n.*400T>C | |
| XM_011510823.3:c.2914+1410T>C (RAB3GAP1) | XP_011509125.1:n.2914+1410T>C | |
| XM_011510825.3:c.*400T>C (RAB3GAP1) | XP_011509127.1:n.*400T>C | |
| XM_011511966.3:c.3049-5005A>G (ZRANB3) | XP_011510268.2:n.3049-5005A>G | |
| XR_001738674.2:n.2941+1410T>C (RAB3GAP1) | ||
| NM_001172435.2:c.*1378T>C (RAB3GAP1) | NP_001165906.1:n.*1378T>C | |
| NM_012233.3:c.*1378T>C (RAB3GAP1) MANE Select | NP_036365.1:n.*1378T>C |