Linked Data
ClinVar Variation Id:
948877
ClinVar RCV Id:
RCV001220218
dbSNP Id:
rs1693043933
gnomAD v4:
2-214745157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745157T>C , CM000664.2:g.214745157T>C | GRCh38 |
| NC_000002.11:g.215609881T>C , CM000664.1:g.215609881T>C | GRCh37 |
| NC_000002.10:g.215318126T>C | NCBI36 |
| NG_012047.2:g.69548A>G | |
| NG_012047.3:g.69555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1813A>G MANE Select | ENSP00000260947.4:p.Thr605Ala | |
| ENST00000421162.2:c.460A>G | ENSP00000392245.2:p.Thr154Ala | |
| ENST00000613192.2:c.159-14649A>G | ENSP00000483275.2:n.159-14649A>G | |
| ENST00000613374.5:c.403A>G | ENSP00000484464.1:p.Thr135Ala | |
| ENST00000613706.5:c.1405A>G | ENSP00000484976.2:p.Thr469Ala | |
| ENST00000617164.5:c.1756A>G | ENSP00000480470.1:p.Thr586Ala | |
| ENST00000619009.5:c.365-14649A>G | ENSP00000482293.1:n.365-14649A>G | |
| ENST00000650978.1:c.3188A>G | ||
| ENST00000260947.8:c.1813A>G | ENSP00000260947.4:p.Thr605Ala | |
| ENST00000421162.1:c.460A>G | ENSP00000392245.1:p.Thr154Ala | |
| ENST00000455743.5:c.*1433A>G | ENSP00000412186.1:n.*1433A>G | |
| ENST00000613192.1:c.74-14649A>G | ENSP00000483275.1:n.74-14649A>G | |
| ENST00000613374.4:c.403A>G | ENSP00000484464.1:p.Thr135Ala | |
| ENST00000613706.4:c.460A>G | ENSP00000484976.1:p.Thr154Ala | |
| ENST00000617164.4:c.1756A>G | ENSP00000480470.1:p.Thr586Ala | |
| ENST00000619009.4:c.365-14649A>G | ENSP00000482293.1:n.365-14649A>G | |
| ENST00000620057.4:c.*479A>G | ENSP00000481988.1:n.*479A>G | |
| NM_000465.3:c.1813A>G | NP_000456.2:p.Thr605Ala | |
| NM_001282543.1:c.1756A>G | NP_001269472.1:p.Thr586Ala | |
| NM_001282545.1:c.460A>G | NP_001269474.1:p.Thr154Ala | |
| NM_001282548.1:c.403A>G | NP_001269477.1:p.Thr135Ala | |
| NM_001282549.1:c.365-14649A>G | NP_001269478.1:n.365-14649A>G | |
| NR_104212.1:n.1806A>G | ||
| NR_104215.1:n.1749A>G | ||
| NR_104216.1:n.1005A>G | ||
| XM_011511567.1:c.1759A>G | XP_011509869.1:p.Thr587Ala | |
| XM_011511568.1:c.1813A>G | XP_011509870.1:p.Thr605Ala | |
| XM_017004613.1:c.1912A>G | XP_016860102.1:p.Thr638Ala | |
| XM_017004614.1:c.1912A>G | XP_016860103.1:p.Thr638Ala | |
| XR_002959322.1:n.2003A>G | ||
| NM_000465.4:c.1813A>G MANE Select | NP_000456.2:p.Thr605Ala | |
| NM_001282543.2:c.1756A>G | NP_001269472.1:p.Thr586Ala | |
| NM_001282545.2:c.460A>G | NP_001269474.1:p.Thr154Ala | |
| NM_001282548.2:c.403A>G | NP_001269477.1:p.Thr135Ala | |
| NM_001282549.2:c.365-14649A>G | NP_001269478.1:n.365-14649A>G | |
| NR_104212.2:n.1778A>G | ||
| NR_104215.2:n.1721A>G | ||
| NR_104216.2:n.977A>G |