Linked Data
ClinVar Variation Id:
66995
ClinVar RCV Id:
RCV000057517
dbSNP Id:
rs397515488
gnomAD v4:
6-43645150-C-T
PubMed:
PMID:23993197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43645150C>T , CM000668.2:g.43645150C>T | GRCh38 |
| NC_000006.11:g.43612887C>T , CM000668.1:g.43612887C>T | GRCh37 |
| NC_000006.10:g.43720865C>T | NCBI36 |
| NG_023436.1:g.5121C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.52C>T (RSPH9) MANE Select | ENSP00000361236.4:p.Gln18Ter | |
| ENST00000372163.4:c.52C>T (RSPH9) | ENSP00000361236.4:p.Gln18Ter | |
| ENST00000372165.8:c.52C>T (RSPH9) | ENSP00000361238.4:p.Gln18Ter | |
| NM_001193341.1:c.52C>T (RSPH9) | NP_001180270.1:p.Gln18Ter | |
| NM_152732.4:c.52C>T (RSPH9) | NP_689945.2:p.Gln18Ter | |
| XM_005248901.2:c.52C>T (RSPH9) | XP_005248958.1:p.Gln18Ter | |
| XM_006715014.1:c.52C>T (RSPH9) | XP_006715077.1:p.Gln18Ter | |
| XM_011514356.1:c.52C>T (RSPH9) | XP_011512658.1:p.Gln18Ter | |
| XR_926099.1:n.87C>T (RSPH9) | ||
| XM_005248901.3:c.52C>T (RSPH9) | XP_005248958.1:p.Gln18Ter | |
| XR_002956268.1:n.94C>T (RSPH9) | ||
| XR_002956269.1:n.121C>T (RSPH9) | ||
| XR_926099.2:n.94C>T (RSPH9) | ||
| NM_152732.5:c.52C>T (RSPH9) MANE Select | NP_689945.2:p.Gln18Ter | |
| NM_001193341.2:c.52C>T (RSPH9) | NP_001180270.1:p.Gln18Ter | |
| NM_001318876.2:c.945+115879C>T (POLR1C) | NP_001305805.1:n.945+115879C>T |