gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54071713 (NFE)
Genomes Max Group AF
0.54071713 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.44754779C>T , CM000684.2:g.44754779C>T | GRCh38 |
| NC_000022.10:g.45150659C>T , CM000684.1:g.45150659C>T | GRCh37 |
| NC_000022.9:g.43529323C>T | NCBI36 |
| NG_046967.1:g.57582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356099.11:c.-72+2152C>T (ARHGAP8) MANE Select | ENSP00000348407.6:n.-72+2152C>T | |
| ENST00000336963.8:c.-72+2152C>T (ARHGAP8) | ENSP00000337287.4:n.-72+2152C>T | |
| ENST00000352766.11:c.691+19617C>T (PRR5-ARHGAP8) | ENSP00000262731.11:n.691+19617C>T | |
| ENST00000356099.10:c.-72+2152C>T (ARHGAP8) | ENSP00000348407.6:n.-72+2152C>T | |
| ENST00000361473.9:c.322+28145C>T (PRR5-ARHGAP8) | ENSP00000354732.5:n.322+28145C>T | |
| ENST00000389774.6:c.-72+2152C>T (ARHGAP8) | ENSP00000374424.2:n.-72+2152C>T | |
| ENST00000396119.6:c.-140+2152C>T (ARHGAP8) | ENSP00000379425.2:n.-140+2152C>T | |
| ENST00000412433.5:c.-200+2039C>T (ARHGAP8) | ENSP00000402775.1:n.-200+2039C>T | |
| ENST00000447333.5:c.-72+2152C>T (ARHGAP8) | ENSP00000403618.1:n.-72+2152C>T | |
| ENST00000460809.5:n.54+2152C>T (ARHGAP8) | ||
| ENST00000495250.2:n.105+28145C>T (PRR5-ARHGAP8) | ||
| ENST00000515632.2:c.90+28145C>T (PRR5-ARHGAP8) | ||
| NM_001017526.1:c.-72+2152C>T (ARHGAP8) | NP_001017526.1:n.-72+2152C>T | |
| NM_001198726.1:c.-72+2152C>T (ARHGAP8) | NP_001185655.1:n.-72+2152C>T | |
| NM_181334.5:c.322+28145C>T (PRR5-ARHGAP8) | NP_851851.3:n.322+28145C>T | |
| NM_181335.2:c.-72+2152C>T (ARHGAP8) | NP_851852.2:n.-72+2152C>T | |
| NM_001017526.2:c.-72+2152C>T (ARHGAP8) | NP_001017526.1:n.-72+2152C>T | |
| NM_001198726.2:c.-72+2152C>T (ARHGAP8) | NP_001185655.1:n.-72+2152C>T | |
| NM_181334.6:c.322+28145C>T (PRR5-ARHGAP8) | NP_851851.3:n.322+28145C>T | |
| NM_181335.3:c.-72+2152C>T (ARHGAP8) MANE Select | NP_851852.2:n.-72+2152C>T |