Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36819644C>A , CM000675.2:g.36819644C>A | GRCh38 |
| NC_000013.10:g.37393781C>A , CM000675.1:g.37393781C>A | GRCh37 |
| NC_000013.9:g.36291781C>A | NCBI36 |
| NG_007876.1:g.5443C>A , LRG_103:g.5443C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000538.4:c.287C>A (RFXAP) MANE Select | NP_000529.1:p.Ser96Ter |
| ENST00000255476.3:c.287C>A (RFXAP) MANE Select | ENSP00000255476.3:p.Ser96Ter |
| NM_000538.3:c.287C>A , LRG_103t1:c.287C>A (RFXAP) | NP_000529.1:p.Ser96Ter |
| ENST00000255476.2:c.287C>A (RFXAP) | ENSP00000255476.2:p.Ser96Ter |
| XM_011535096.1:c.1261-3503G>T (SMAD9) | XP_011533398.1:n.1261-3503G>T |