COSMIC:
COSN8992418 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90955286 (EAS)
Genomes Max Group AF
0.89995559 (EAS)
Exomes Max Group AF
0.90838021 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29574957A>G , CM000679.2:g.29574957A>G | GRCh38 |
| NC_000017.10:g.27901975A>G , CM000679.1:g.27901975A>G | GRCh37 |
| NC_000017.9:g.24926101A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225394.8:c.2074-43T>C (GIT1) MANE Select | ENSP00000225394.3:n.2074-43T>C | |
| ENST00000225394.7:c.2074-43T>C (GIT1) | ENSP00000225394.3:n.2074-43T>C | |
| ENST00000394869.7:c.2101-43T>C (GIT1) | ENSP00000378338.3:n.2101-43T>C | |
| ENST00000473217.5:n.2023-43T>C (GIT1) | ||
| ENST00000578670.5:c.517-43T>C (GIT1) | ||
| ENST00000579937.5:c.2078T>C (GIT1) | ENSP00000464388.1:p.Val693Ala | |
| ENST00000581348.5:c.2032-43T>C (GIT1) | ENSP00000462775.1:n.2032-43T>C | |
| NM_001085454.1:c.2101-43T>C (GIT1) | NP_001078923.1:n.2101-43T>C | |
| NM_014030.3:c.2074-43T>C (GIT1) | NP_054749.2:n.2074-43T>C | |
| XM_011524684.1:c.2101-22T>C (GIT1) | XP_011522986.1:n.2101-22T>C | |
| XM_011524685.1:c.2074-22T>C (GIT1) | XP_011522987.1:n.2074-22T>C | |
| XM_011525442.1:c.994+2260A>G (TP53I13) | XP_011523744.1:n.994+2260A>G | |
| XM_011525443.1:c.994+2260A>G (TP53I13) | XP_011523745.1:n.994+2260A>G | |
| XM_011525444.1:c.994+2260A>G (TP53I13) | XP_011523746.1:n.994+2260A>G | |
| XM_011525445.1:c.994+2260A>G (TP53I13) | XP_011523747.1:n.994+2260A>G | |
| XM_011525446.1:c.994+2260A>G (TP53I13) | XP_011523748.1:n.994+2260A>G | |
| XM_011525447.1:c.994+2260A>G (TP53I13) | XP_011523749.1:n.994+2260A>G | |
| XM_011525448.1:c.922+2260A>G (TP53I13) | XP_011523750.1:n.922+2260A>G | |
| XM_011525449.1:c.721+2260A>G (TP53I13) | XP_011523751.1:n.721+2260A>G | |
| XM_011524684.2:c.2101-22T>C (GIT1) | XP_011522986.1:n.2101-22T>C | |
| XM_011524685.2:c.2074-22T>C (GIT1) | XP_011522987.1:n.2074-22T>C | |
| XM_024450731.1:c.2197-22T>C (GIT1) | XP_024306499.1:n.2197-22T>C | |
| XM_024450732.1:c.2197-43T>C (GIT1) | XP_024306500.1:n.2197-43T>C | |
| XM_024450733.1:c.2170-22T>C (GIT1) | XP_024306501.1:n.2170-22T>C | |
| XM_024450734.1:c.2170-43T>C (GIT1) | XP_024306502.1:n.2170-43T>C | |
| NM_001085454.2:c.2101-43T>C (GIT1) | NP_001078923.1:n.2101-43T>C | |
| NM_014030.4:c.2074-43T>C (GIT1) MANE Select | NP_054749.2:n.2074-43T>C |