Linked Data
ClinVar Variation Id:
454993
ClinVar RCV Id:
RCV000526663
dbSNP Id:
rs199874020
ExAC:
6:43618257 G / C
gnomAD v2:
6-43618257-G-C
gnomAD v3:
6-43650520-G-C
gnomAD v4:
6-43650520-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43650520G>C , CM000668.2:g.43650520G>C | GRCh38 |
| NC_000006.11:g.43618257G>C , CM000668.1:g.43618257G>C | GRCh37 |
| NC_000006.10:g.43726235G>C | NCBI36 |
| NG_023436.1:g.10491G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.373G>C (RSPH9) MANE Select | ENSP00000361236.4:p.Val125Leu | |
| ENST00000372163.4:c.373G>C (RSPH9) | ENSP00000361236.4:p.Val125Leu | |
| ENST00000372165.8:c.373G>C (RSPH9) | ENSP00000361238.4:p.Val125Leu | |
| NM_001193341.1:c.373G>C (RSPH9) | NP_001180270.1:p.Val125Leu | |
| NM_152732.4:c.373G>C (RSPH9) | NP_689945.2:p.Val125Leu | |
| XM_005248901.2:c.373G>C (RSPH9) | XP_005248958.1:p.Val125Leu | |
| XM_006715014.1:c.228-5042G>C (RSPH9) | XP_006715077.1:n.228-5042G>C | |
| XM_011514356.1:c.373G>C (RSPH9) | XP_011512658.1:p.Val125Leu | |
| XR_926099.1:n.408G>C (RSPH9) | ||
| XM_005248901.3:c.373G>C (RSPH9) | XP_005248958.1:p.Val125Leu | |
| XR_002956268.1:n.415G>C (RSPH9) | ||
| XR_002956269.1:n.297-5042G>C (RSPH9) | ||
| XR_926099.2:n.415G>C (RSPH9) | ||
| NM_152732.5:c.373G>C (RSPH9) MANE Select | NP_689945.2:p.Val125Leu | |
| NM_001193341.2:c.373G>C (RSPH9) | NP_001180270.1:p.Val125Leu | |
| NM_001318876.2:c.945+121249G>C (POLR1C) | NP_001305805.1:n.945+121249G>C |