gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007912 (NFE)
Exomes Max Group AF
0.00008396 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36819960A>T , CM000675.2:g.36819960A>T | GRCh38 |
| NC_000013.10:g.37394097A>T , CM000675.1:g.37394097A>T | GRCh37 |
| NC_000013.9:g.36292097A>T | NCBI36 |
| NG_007876.1:g.5759A>T , LRG_103:g.5759A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255476.3:c.600+3A>T (RFXAP) MANE Select | ENSP00000255476.3:n.600+3A>T | |
| ENST00000255476.2:c.600+3A>T (RFXAP) | ENSP00000255476.2:n.600+3A>T | |
| NM_000538.3:c.600+3A>T , LRG_103t1:c.600+3A>T (RFXAP) | NP_000529.1:n.600+3A>T | |
| XM_011535096.1:c.1261-3819T>A (SMAD9) | XP_011533398.1:n.1261-3819T>A | |
| NM_000538.4:c.600+3A>T (RFXAP) MANE Select | NP_000529.1:n.600+3A>T |