Linked Data
ClinVar Variation Id:
1150499
ClinVar RCV Id:
RCV001491133
dbSNP Id:
rs2125010187
gnomAD v4:
3-14148850-T-C
MyVariant Identifiers:
chr3:g.14190350T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148850T>C , CM000665.2:g.14148850T>C | GRCh38 |
| NC_000003.11:g.14190350T>C , CM000665.1:g.14190350T>C | GRCh37 |
| NC_000003.10:g.14165351T>C | NCBI36 |
| NG_011763.1:g.34823A>G , LRG_472:g.34823A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2214A>G MANE Select | ENSP00000285021.8:p.Thr738= | |
| ENST00000285021.11:c.2214A>G | ENSP00000285021.7:p.Thr738= | |
| ENST00000427795.2:n.79A>G | ||
| ENST00000476581.6:c.*1667A>G | ENSP00000424548.1:n.*1667A>G | |
| NM_004628.4:c.2214A>G , LRG_472t1:c.2214A>G | NP_004619.3:p.Thr738= | |
| NR_027299.1:n.2194A>G | ||
| XM_011534092.1:c.2214A>G | XP_011532394.1:p.Thr738= | |
| NM_001354726.1:c.1635A>G | NP_001341655.1:p.Thr545= | |
| NM_001354727.1:c.2208A>G | NP_001341656.1:p.Thr736= | |
| NM_001354729.1:c.2196A>G | NP_001341658.1:p.Thr732= | |
| NM_001354730.1:c.1968A>G | NP_001341659.1:p.Thr656= | |
| NR_148950.1:n.2157A>G | ||
| NR_148951.1:n.2033A>G | ||
| XR_001740256.2:n.2247A>G | ||
| XR_002959580.1:n.2247A>G | ||
| XR_002959581.1:n.3864A>G | ||
| NM_001354727.2:c.2208A>G | NP_001341656.1:p.Thr736= | |
| NM_004628.5:c.2214A>G MANE Select | NP_004619.3:p.Thr738= | |
| NR_148950.2:n.2086A>G | ||
| NR_148951.2:n.1962A>G | ||
| NM_001354726.2:c.1635A>G | NP_001341655.1:p.Thr545= | |
| NM_001354729.2:c.2196A>G | NP_001341658.1:p.Thr732= | |
| NM_001354730.2:c.1968A>G | NP_001341659.1:p.Thr656= |