Revel Score:
ENST00000372165
0.184
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00853467 (EAS)
Genomes Max Group AF
0.0051616 (EAS)
Exomes Max Group AF
0.00877802 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43670937C>T , CM000668.2:g.43670937C>T | GRCh38 |
| NC_000006.11:g.43638674C>T , CM000668.1:g.43638674C>T | GRCh37 |
| NC_000006.10:g.43746652C>T | NCBI36 |
| NG_023436.1:g.30908C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.819C>T (RSPH9) MANE Select | ENSP00000361236.4:p.Pro273= | |
| ENST00000372163.4:c.819C>T (RSPH9) | ENSP00000361236.4:p.Pro273= | |
| ENST00000372165.8:c.871C>T (RSPH9) | ENSP00000361238.4:p.Leu291Phe | |
| NM_001193341.1:c.871C>T (RSPH9) | NP_001180270.1:p.Leu291Phe | |
| NM_152732.4:c.819C>T (RSPH9) | NP_689945.2:p.Pro273= | |
| XM_005248901.2:c.916C>T (RSPH9) | XP_005248958.1:p.Leu306Phe | |
| XM_005248901.3:c.916C>T (RSPH9) | XP_005248958.1:p.Leu306Phe | |
| XR_002956268.1:n.909C>T (RSPH9) | ||
| XR_002956269.1:n.819C>T (RSPH9) | ||
| NM_152732.5:c.819C>T (RSPH9) MANE Select | NP_689945.2:p.Pro273= | |
| NM_001193341.2:c.871C>T (RSPH9) | NP_001180270.1:p.Leu291Phe | |
| NM_001318876.2:c.945+141666C>T (POLR1C) | NP_001305805.1:n.945+141666C>T |