Linked Data
ClinVar Variation Id:
750498
ClinVar RCV Id:
RCV000927464
dbSNP Id:
rs780345675
ExAC:
3:14199610 T / C
gnomAD v2:
3-14199610-T-C
gnomAD v3:
3-14158110-T-C
gnomAD v4:
3-14158110-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158110T>C , CM000665.2:g.14158110T>C | GRCh38 |
| NC_000003.11:g.14199610T>C , CM000665.1:g.14199610T>C | GRCh37 |
| NC_000003.10:g.14174612T>C | NCBI36 |
| NG_011763.1:g.25563A>G , LRG_472:g.25563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1773A>G MANE Select | ENSP00000285021.8:p.Thr591= | |
| ENST00000285021.11:c.1773A>G | ENSP00000285021.7:p.Thr591= | |
| ENST00000476581.6:c.*1226A>G | ENSP00000424548.1:n.*1226A>G | |
| NM_004628.4:c.1773A>G , LRG_472t1:c.1773A>G | NP_004619.3:p.Thr591= | |
| NR_027299.1:n.1753A>G | ||
| XM_011534092.1:c.1773A>G | XP_011532394.1:p.Thr591= | |
| XM_011534093.1:c.1773A>G | XP_011532395.1:p.Thr591= | |
| NM_001354726.1:c.1194A>G | NP_001341655.1:p.Thr398= | |
| NM_001354727.1:c.1773A>G | NP_001341656.1:p.Thr591= | |
| NM_001354729.1:c.1755A>G | NP_001341658.1:p.Thr585= | |
| NM_001354730.1:c.1626+147A>G | NP_001341659.1:n.1626+147A>G | |
| NR_148950.1:n.1877A>G | ||
| NR_148951.1:n.1753A>G | ||
| XR_001740256.2:n.1806A>G | ||
| XR_002959580.1:n.1806A>G | ||
| XR_002959581.1:n.1806A>G | ||
| NM_001354727.2:c.1773A>G | NP_001341656.1:p.Thr591= | |
| NM_004628.5:c.1773A>G MANE Select | NP_004619.3:p.Thr591= | |
| NR_148950.2:n.1806A>G | ||
| NR_148951.2:n.1682A>G | ||
| NM_001354726.2:c.1194A>G | NP_001341655.1:p.Thr398= | |
| NM_001354729.2:c.1755A>G | NP_001341658.1:p.Thr585= | |
| NM_001354730.2:c.1626+147A>G | NP_001341659.1:n.1626+147A>G |