Linked Data
dbSNP Id:
rs775231298
ExAC:
3:14199578 C / A
gnomAD v2:
3-14199578-C-A
gnomAD v3:
3-14158078-C-A
gnomAD v4:
3-14158078-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158078C>A , CM000665.2:g.14158078C>A | GRCh38 |
| NC_000003.11:g.14199578C>A , CM000665.1:g.14199578C>A | GRCh37 |
| NC_000003.10:g.14174580C>A | NCBI36 |
| NG_011763.1:g.25595G>T , LRG_472:g.25595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1805G>T MANE Select | ENSP00000285021.8:p.Trp602Leu | |
| ENST00000285021.11:c.1805G>T | ENSP00000285021.7:p.Trp602Leu | |
| ENST00000476581.6:c.*1258G>T | ENSP00000424548.1:n.*1258G>T | |
| NM_004628.4:c.1805G>T , LRG_472t1:c.1805G>T | NP_004619.3:p.Trp602Leu | |
| NR_027299.1:n.1785G>T | ||
| XM_011534092.1:c.1805G>T | XP_011532394.1:p.Trp602Leu | |
| XM_011534093.1:c.1805G>T | XP_011532395.1:p.Trp602Leu | |
| NM_001354726.1:c.1226G>T | NP_001341655.1:p.Trp409Leu | |
| NM_001354727.1:c.1805G>T | NP_001341656.1:p.Trp602Leu | |
| NM_001354729.1:c.1787G>T | NP_001341658.1:p.Trp596Leu | |
| NM_001354730.1:c.1626+179G>T | NP_001341659.1:n.1626+179G>T | |
| NR_148950.1:n.1909G>T | ||
| NR_148951.1:n.1785G>T | ||
| XR_001740256.2:n.1838G>T | ||
| XR_002959580.1:n.1838G>T | ||
| XR_002959581.1:n.1838G>T | ||
| NM_001354727.2:c.1805G>T | NP_001341656.1:p.Trp602Leu | |
| NM_004628.5:c.1805G>T MANE Select | NP_004619.3:p.Trp602Leu | |
| NR_148950.2:n.1838G>T | ||
| NR_148951.2:n.1714G>T | ||
| NM_001354726.2:c.1226G>T | NP_001341655.1:p.Trp409Leu | |
| NM_001354729.2:c.1787G>T | NP_001341658.1:p.Trp596Leu | |
| NM_001354730.2:c.1626+179G>T | NP_001341659.1:n.1626+179G>T |