gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82108023 (AFR)
Genomes Max Group AF
0.82108023 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32635275C>T , CM000677.2:g.32635275C>T | GRCh38 |
| NC_000015.9:g.32927476C>T , CM000677.1:g.32927476C>T | GRCh37 |
| NC_000015.8:g.30714768C>T | NCBI36 |
| NG_051557.1:g.26543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689909.1:c.1229+2167C>T (ARHGAP11A-SCG5) | ENSP00000510704.1:n.1229+2167C>T | |
| ENST00000692248.1:c.1235+2167C>T (ARHGAP11A-SCG5) | ENSP00000510771.1:n.1235+2167C>T | |
| ENST00000361627.8:c.1345-502C>T (ARHGAP11A) MANE Select | ENSP00000355090.3:n.1345-502C>T | |
| ENST00000361627.7:c.1345-502C>T (ARHGAP11A) | ENSP00000355090.3:n.1345-502C>T | |
| ENST00000543522.5:c.778-502C>T (ARHGAP11A) | ENSP00000440073.1:n.778-502C>T | |
| ENST00000562481.1:c.396-502C>T (ARHGAP11A) | ||
| ENST00000563864.5:c.1261-502C>T (ARHGAP11A) | ENSP00000456078.1:n.1261-502C>T | |
| ENST00000564918.1:n.394-502C>T (ARHGAP11A) | ||
| ENST00000565905.5:c.778-502C>T (ARHGAP11A) | ENSP00000455754.1:n.778-502C>T | |
| ENST00000567348.5:c.1345-502C>T (ARHGAP11A) | ENSP00000454575.1:n.1345-502C>T | |
| NM_001286479.1:c.778-502C>T (ARHGAP11A) | NP_001273408.1:n.778-502C>T | |
| NM_001286480.1:c.778-502C>T (ARHGAP11A) | NP_001273409.1:n.778-502C>T | |
| NM_014783.4:c.1345-502C>T (ARHGAP11A) | NP_055598.1:n.1345-502C>T | |
| NM_199357.1:c.1345-502C>T (ARHGAP11A) | NP_955389.1:n.1345-502C>T | |
| XM_005254808.3:c.1258-502C>T (ARHGAP11A) | XP_005254865.1:n.1258-502C>T | |
| XM_011522260.1:c.1345-502C>T (ARHGAP11A) | XP_011520562.1:n.1345-502C>T | |
| XM_011522261.1:c.1261-502C>T (ARHGAP11A) | XP_011520563.1:n.1261-502C>T | |
| XM_011522262.1:c.778-502C>T (ARHGAP11A) | XP_011520564.1:n.778-502C>T | |
| NM_001286479.2:c.778-502C>T (ARHGAP11A) | NP_001273408.1:n.778-502C>T | |
| NM_001286480.2:c.778-502C>T (ARHGAP11A) | NP_001273409.1:n.778-502C>T | |
| NM_014783.5:c.1345-502C>T (ARHGAP11A) | NP_055598.1:n.1345-502C>T | |
| NM_199357.2:c.1345-502C>T (ARHGAP11A) | NP_955389.1:n.1345-502C>T | |
| NM_014783.6:c.1345-502C>T (ARHGAP11A) MANE Select | NP_055598.1:n.1345-502C>T | |
| NM_001286480.3:c.778-502C>T (ARHGAP11A) | NP_001273409.1:n.778-502C>T | |
| NM_001368319.1:c.1235+2167C>T (ARHGAP11A-SCG5) | NP_001355248.1:n.1235+2167C>T | |
| NM_001286479.3:c.778-502C>T (ARHGAP11A) | NP_001273408.1:n.778-502C>T | |
| NM_199357.3:c.1345-502C>T (ARHGAP11A) | NP_955389.1:n.1345-502C>T |