COSMIC:
COSM50776 (not active)
Revel Score:
ENST00000265351 (MANE Select)
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07807043 (NFE)
Genomes Max Group AF
0.07475829 (NFE)
Exomes Max Group AF
0.07818013 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43567281C>T , CM000668.2:g.43567281C>T | GRCh38 |
| NC_000006.11:g.43535018C>T , CM000668.1:g.43535018C>T | GRCh37 |
| NC_000006.10:g.43642996C>T | NCBI36 |
| NG_051658.1:g.13795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265351.12:c.722G>A (XPO5) MANE Select | ENSP00000265351.7:p.Ser241Asn | |
| ENST00000265351.11:c.722G>A (XPO5) | ENSP00000265351.7:p.Ser241Asn | |
| NM_020750.2:c.722G>A (XPO5) | NP_065801.1:p.Ser241Asn | |
| NR_144392.1:n.933G>A (XPO5) | ||
| NM_020750.3:c.722G>A (XPO5) MANE Select | NP_065801.1:p.Ser241Asn | |
| NM_001318876.2:c.945+38010C>T (POLR1C) | NP_001305805.1:n.945+38010C>T | |
| NR_144392.2:n.896G>A (XPO5) |