Linked Data
ClinVar Variation Id:
3099912
ClinVar RCV Id:
RCV004390737
dbSNP Id:
rs375882746
ExAC:
17:27901877 T / C
gnomAD v2:
17-27901877-T-C
gnomAD v4:
17-29574859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29574859T>C , CM000679.2:g.29574859T>C | GRCh38 |
| NC_000017.10:g.27901877T>C , CM000679.1:g.27901877T>C | GRCh37 |
| NC_000017.9:g.24926003T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225394.8:c.2129A>G (GIT1) MANE Select | ENSP00000225394.3:p.Tyr710Cys | |
| ENST00000225394.7:c.2129A>G (GIT1) | ENSP00000225394.3:p.Tyr710Cys | |
| ENST00000394869.7:c.2156A>G (GIT1) | ENSP00000378338.3:p.Tyr719Cys | |
| ENST00000473217.5:n.2078A>G (GIT1) | ||
| ENST00000578670.5:c.572A>G (GIT1) | ||
| ENST00000579937.5:c.*91A>G (GIT1) | ENSP00000464388.1:n.*91A>G | |
| ENST00000581348.5:c.2087A>G (GIT1) | ENSP00000462775.1:p.Tyr696Cys | |
| NM_001085454.1:c.2156A>G (GIT1) | NP_001078923.1:p.Tyr719Cys | |
| NM_014030.3:c.2129A>G (GIT1) | NP_054749.2:p.Tyr710Cys | |
| XM_011524684.1:c.2177A>G (GIT1) | XP_011522986.1:p.Tyr726Cys | |
| XM_011524685.1:c.2150A>G (GIT1) | XP_011522987.1:p.Tyr717Cys | |
| XM_011525442.1:c.994+2162T>C (TP53I13) | XP_011523744.1:n.994+2162T>C | |
| XM_011525443.1:c.994+2162T>C (TP53I13) | XP_011523745.1:n.994+2162T>C | |
| XM_011525444.1:c.994+2162T>C (TP53I13) | XP_011523746.1:n.994+2162T>C | |
| XM_011525445.1:c.994+2162T>C (TP53I13) | XP_011523747.1:n.994+2162T>C | |
| XM_011525446.1:c.994+2162T>C (TP53I13) | XP_011523748.1:n.994+2162T>C | |
| XM_011525447.1:c.994+2162T>C (TP53I13) | XP_011523749.1:n.994+2162T>C | |
| XM_011525448.1:c.922+2162T>C (TP53I13) | XP_011523750.1:n.922+2162T>C | |
| XM_011525449.1:c.721+2162T>C (TP53I13) | XP_011523751.1:n.721+2162T>C | |
| XM_011524684.2:c.2177A>G (GIT1) | XP_011522986.1:p.Tyr726Cys | |
| XM_011524685.2:c.2150A>G (GIT1) | XP_011522987.1:p.Tyr717Cys | |
| XM_024450731.1:c.2273A>G (GIT1) | XP_024306499.1:p.Tyr758Cys | |
| XM_024450732.1:c.2252A>G (GIT1) | XP_024306500.1:p.Tyr751Cys | |
| XM_024450733.1:c.2246A>G (GIT1) | XP_024306501.1:p.Tyr749Cys | |
| XM_024450734.1:c.2225A>G (GIT1) | XP_024306502.1:p.Tyr742Cys | |
| NM_001085454.2:c.2156A>G (GIT1) | NP_001078923.1:p.Tyr719Cys | |
| NM_014030.4:c.2129A>G (GIT1) MANE Select | NP_054749.2:p.Tyr710Cys |