Linked Data
ClinVar Variation Id:
135486
dbSNP Id:
rs183238369
ExAC:
3:14199603 G / A
gnomAD v2:
3-14199603-G-A
gnomAD v3:
3-14158103-G-A
gnomAD v4:
3-14158103-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158103G>A , CM000665.2:g.14158103G>A | GRCh38 |
| NC_000003.11:g.14199603G>A , CM000665.1:g.14199603G>A | GRCh37 |
| NC_000003.10:g.14174605G>A | NCBI36 |
| NG_011763.1:g.25570C>T , LRG_472:g.25570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1780C>T MANE Select | ENSP00000285021.8:p.Arg594Cys | |
| ENST00000285021.11:c.1780C>T | ENSP00000285021.7:p.Arg594Cys | |
| ENST00000476581.6:c.*1233C>T | ENSP00000424548.1:n.*1233C>T | |
| NM_004628.4:c.1780C>T , LRG_472t1:c.1780C>T | NP_004619.3:p.Arg594Cys | |
| NR_027299.1:n.1760C>T | ||
| XM_011534092.1:c.1780C>T | XP_011532394.1:p.Arg594Cys | |
| XM_011534093.1:c.1780C>T | XP_011532395.1:p.Arg594Cys | |
| NM_001354726.1:c.1201C>T | NP_001341655.1:p.Arg401Cys | |
| NM_001354727.1:c.1780C>T | NP_001341656.1:p.Arg594Cys | |
| NM_001354729.1:c.1762C>T | NP_001341658.1:p.Arg588Cys | |
| NM_001354730.1:c.1626+154C>T | NP_001341659.1:n.1626+154C>T | |
| NR_148950.1:n.1884C>T | ||
| NR_148951.1:n.1760C>T | ||
| XR_001740256.2:n.1813C>T | ||
| XR_002959580.1:n.1813C>T | ||
| XR_002959581.1:n.1813C>T | ||
| NM_001354727.2:c.1780C>T | NP_001341656.1:p.Arg594Cys | |
| NM_004628.5:c.1780C>T MANE Select | NP_004619.3:p.Arg594Cys | |
| NR_148950.2:n.1813C>T | ||
| NR_148951.2:n.1689C>T | ||
| NM_001354726.2:c.1201C>T | NP_001341655.1:p.Arg401Cys | |
| NM_001354729.2:c.1762C>T | NP_001341658.1:p.Arg588Cys | |
| NM_001354730.2:c.1626+154C>T | NP_001341659.1:n.1626+154C>T |