ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016423 (AMR)
Genomes Max Group AF
0.00012883 (AMR)
Exomes Max Group AF
0.00011804 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36819434C>G , CM000675.2:g.36819434C>G | GRCh38 |
| NC_000013.10:g.37393571C>G , CM000675.1:g.37393571C>G | GRCh37 |
| NC_000013.9:g.36291571C>G | NCBI36 |
| NG_007876.1:g.5233C>G , LRG_103:g.5233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255476.3:c.77C>G (RFXAP) MANE Select | ENSP00000255476.3:p.Pro26Arg | |
| ENST00000255476.2:c.77C>G (RFXAP) | ENSP00000255476.2:p.Pro26Arg | |
| NM_000538.3:c.77C>G , LRG_103t1:c.77C>G (RFXAP) | NP_000529.1:p.Pro26Arg | |
| XM_011535096.1:c.1261-3293G>C (SMAD9) | XP_011533398.1:n.1261-3293G>C | |
| NM_000538.4:c.77C>G (RFXAP) MANE Select | NP_000529.1:p.Pro26Arg |