Linked Data
ClinVar Variation Id:
454992
ClinVar RCV Id:
RCV000548387
dbSNP Id:
rs775136764
gnomAD v2:
6-43618106-T-A
gnomAD v4:
6-43650369-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43650369T>A , CM000668.2:g.43650369T>A | GRCh38 |
| NC_000006.11:g.43618106T>A , CM000668.1:g.43618106T>A | GRCh37 |
| NC_000006.10:g.43726084T>A | NCBI36 |
| NG_023436.1:g.10340T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.228-6T>A (RSPH9) MANE Select | ENSP00000361236.4:n.228-6T>A | |
| ENST00000372163.4:c.228-6T>A (RSPH9) | ENSP00000361236.4:n.228-6T>A | |
| ENST00000372165.8:c.228-6T>A (RSPH9) | ENSP00000361238.4:n.228-6T>A | |
| NM_001193341.1:c.228-6T>A (RSPH9) | NP_001180270.1:n.228-6T>A | |
| NM_152732.4:c.228-6T>A (RSPH9) | NP_689945.2:n.228-6T>A | |
| XM_005248901.2:c.228-6T>A (RSPH9) | XP_005248958.1:n.228-6T>A | |
| XM_006715014.1:c.227+5044T>A (RSPH9) | XP_006715077.1:n.227+5044T>A | |
| XM_011514356.1:c.228-6T>A (RSPH9) | XP_011512658.1:n.228-6T>A | |
| XR_926099.1:n.263-6T>A (RSPH9) | ||
| XM_005248901.3:c.228-6T>A (RSPH9) | XP_005248958.1:n.228-6T>A | |
| XR_002956268.1:n.270-6T>A (RSPH9) | ||
| XR_002956269.1:n.296+5044T>A (RSPH9) | ||
| XR_926099.2:n.270-6T>A (RSPH9) | ||
| NM_152732.5:c.228-6T>A (RSPH9) MANE Select | NP_689945.2:n.228-6T>A | |
| NM_001193341.2:c.228-6T>A (RSPH9) | NP_001180270.1:n.228-6T>A | |
| NM_001318876.2:c.945+121098T>A (POLR1C) | NP_001305805.1:n.945+121098T>A |