Linked Data
dbSNP Id:
rs758684050
ExAC:
6:43618153 A / G
gnomAD v2:
6-43618153-A-G
gnomAD v4:
6-43650416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43650416A>G , CM000668.2:g.43650416A>G | GRCh38 |
| NC_000006.11:g.43618153A>G , CM000668.1:g.43618153A>G | GRCh37 |
| NC_000006.10:g.43726131A>G | NCBI36 |
| NG_023436.1:g.10387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.269A>G (RSPH9) MANE Select | ENSP00000361236.4:p.Glu90Gly | |
| ENST00000372163.4:c.269A>G (RSPH9) | ENSP00000361236.4:p.Glu90Gly | |
| ENST00000372165.8:c.269A>G (RSPH9) | ENSP00000361238.4:p.Glu90Gly | |
| NM_001193341.1:c.269A>G (RSPH9) | NP_001180270.1:p.Glu90Gly | |
| NM_152732.4:c.269A>G (RSPH9) | NP_689945.2:p.Glu90Gly | |
| XM_005248901.2:c.269A>G (RSPH9) | XP_005248958.1:p.Glu90Gly | |
| XM_006715014.1:c.227+5091A>G (RSPH9) | XP_006715077.1:n.227+5091A>G | |
| XM_011514356.1:c.269A>G (RSPH9) | XP_011512658.1:p.Glu90Gly | |
| XR_926099.1:n.304A>G (RSPH9) | ||
| XM_005248901.3:c.269A>G (RSPH9) | XP_005248958.1:p.Glu90Gly | |
| XR_002956268.1:n.311A>G (RSPH9) | ||
| XR_002956269.1:n.296+5091A>G (RSPH9) | ||
| XR_926099.2:n.311A>G (RSPH9) | ||
| NM_152732.5:c.269A>G (RSPH9) MANE Select | NP_689945.2:p.Glu90Gly | |
| NM_001193341.2:c.269A>G (RSPH9) | NP_001180270.1:p.Glu90Gly | |
| NM_001318876.2:c.945+121145A>G (POLR1C) | NP_001305805.1:n.945+121145A>G |