Linked Data
ClinVar Variation Id:
133842
dbSNP Id:
rs369542555
gnomAD v4:
1-193135578-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193135578C>A , CM000663.2:g.193135578C>A | GRCh38 |
| NC_000001.10:g.193104708C>A , CM000663.1:g.193104708C>A | GRCh37 |
| NC_000001.9:g.191371331C>A | NCBI36 |
| NG_012691.1:g.18621C>A , LRG_507:g.18621C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.412C>A MANE Select | ENSP00000356405.4:p.Pro138Thr | |
| ENST00000635846.1:c.412C>A | ENSP00000490035.1:p.Pro138Thr | |
| ENST00000643006.1:c.412C>A | ENSP00000496633.1:p.Pro138Thr | |
| ENST00000643784.1:c.412C>A | ENSP00000494944.1:p.Pro138Thr | |
| ENST00000647662.1:n.313C>A | ||
| ENST00000648071.1:c.*388C>A | ENSP00000497513.1:n.*388C>A | |
| ENST00000649606.1:n.425C>A | ||
| ENST00000649706.1:n.353C>A | ||
| ENST00000649895.1:n.630C>A | ||
| ENST00000650197.1:c.412C>A | ENSP00000496929.1:p.Pro138Thr | |
| ENST00000367435.3:c.412C>A | ENSP00000356405.3:p.Pro138Thr | |
| ENST00000482484.1:n.664C>A | ||
| NM_024529.4:c.412C>A , LRG_507t1:c.412C>A | NP_078805.3:p.Pro138Thr | |
| XM_006711537.2:c.412C>A | XP_006711600.1:p.Pro138Thr | |
| XM_006711537.4:c.412C>A | XP_006711600.1:p.Pro138Thr | |
| NM_024529.5:c.412C>A MANE Select | NP_078805.3:p.Pro138Thr |