Linked Data
ClinVar Variation Id:
2031221
ClinVar RCV Id:
RCV002867048
gnomAD v4:
3-14148600-G-A
MyVariant Identifiers:
chr3:g.14190100G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148600G>A , CM000665.2:g.14148600G>A | GRCh38 |
| NC_000003.11:g.14190100G>A , CM000665.1:g.14190100G>A | GRCh37 |
| NC_000003.10:g.14165101G>A | NCBI36 |
| NG_011763.1:g.35073C>T , LRG_472:g.35073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2382C>T MANE Select | ENSP00000285021.8:p.Ile794= | |
| ENST00000285021.11:c.2382C>T | ENSP00000285021.7:p.Ile794= | |
| ENST00000427795.2:n.247C>T | ||
| ENST00000476581.6:c.*1835C>T | ENSP00000424548.1:n.*1835C>T | |
| NM_004628.4:c.2382C>T , LRG_472t1:c.2382C>T | NP_004619.3:p.Ile794= | |
| NR_027299.1:n.2362C>T | ||
| XM_011534092.1:c.2382C>T | XP_011532394.1:p.Ile794= | |
| NM_001354726.1:c.1803C>T | NP_001341655.1:p.Ile601= | |
| NM_001354727.1:c.2376C>T | NP_001341656.1:p.Ile792= | |
| NM_001354729.1:c.2364C>T | NP_001341658.1:p.Ile788= | |
| NM_001354730.1:c.2136C>T | NP_001341659.1:p.Ile712= | |
| NR_148950.1:n.2325C>T | ||
| NR_148951.1:n.2201C>T | ||
| XR_001740256.2:n.2415C>T | ||
| XR_002959580.1:n.2415C>T | ||
| XR_002959581.1:n.4032C>T | ||
| NM_001354727.2:c.2376C>T | NP_001341656.1:p.Ile792= | |
| NM_004628.5:c.2382C>T MANE Select | NP_004619.3:p.Ile794= | |
| NR_148950.2:n.2254C>T | ||
| NR_148951.2:n.2130C>T | ||
| NM_001354726.2:c.1803C>T | NP_001341655.1:p.Ile601= | |
| NM_001354729.2:c.2364C>T | NP_001341658.1:p.Ile788= | |
| NM_001354730.2:c.2136C>T | NP_001341659.1:p.Ile712= |