Linked Data
ClinVar Variation Id:
216823
dbSNP Id:
rs770913202
ExAC:
6:43638653 C / T
gnomAD v2:
6-43638653-C-T
gnomAD v3:
6-43670916-C-T
gnomAD v4:
6-43670916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43670916C>T , CM000668.2:g.43670916C>T | GRCh38 |
| NC_000006.11:g.43638653C>T , CM000668.1:g.43638653C>T | GRCh37 |
| NC_000006.10:g.43746631C>T | NCBI36 |
| NG_023436.1:g.30887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.798C>T (RSPH9) MANE Select | ENSP00000361236.4:p.Gly266= | |
| ENST00000372163.4:c.798C>T (RSPH9) | ENSP00000361236.4:p.Gly266= | |
| ENST00000372165.8:c.850C>T (RSPH9) | ENSP00000361238.4:p.Arg284Ter | |
| NM_001193341.1:c.850C>T (RSPH9) | NP_001180270.1:p.Arg284Ter | |
| NM_152732.4:c.798C>T (RSPH9) | NP_689945.2:p.Gly266= | |
| XM_005248901.2:c.895C>T (RSPH9) | XP_005248958.1:p.Arg299Ter | |
| XM_005248901.3:c.895C>T (RSPH9) | XP_005248958.1:p.Arg299Ter | |
| XR_002956268.1:n.888C>T (RSPH9) | ||
| XR_002956269.1:n.798C>T (RSPH9) | ||
| NM_152732.5:c.798C>T (RSPH9) MANE Select | NP_689945.2:p.Gly266= | |
| NM_001193341.2:c.850C>T (RSPH9) | NP_001180270.1:p.Arg284Ter | |
| NM_001318876.2:c.945+141645C>T (POLR1C) | NP_001305805.1:n.945+141645C>T |