Linked Data
ClinVar Variation Id:
479139
dbSNP Id:
rs201565373
ExAC:
2:215610483 A / T
gnomAD v3:
2-214745759-A-T
gnomAD v4:
2-214745759-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745759A>T , CM000664.2:g.214745759A>T | GRCh38 |
| NC_000002.11:g.215610483A>T , CM000664.1:g.215610483A>T | GRCh37 |
| NC_000002.10:g.215318728A>T | NCBI36 |
| NG_012047.2:g.68946T>A | |
| NG_012047.3:g.68953T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1773T>A MANE Select | ENSP00000260947.4:p.Ile591= | |
| ENST00000421162.2:c.420T>A | ENSP00000392245.2:p.Ile140= | |
| ENST00000613192.2:c.159-15251T>A | ENSP00000483275.2:n.159-15251T>A | |
| ENST00000613374.5:c.363T>A | ENSP00000484464.1:p.Ile121= | |
| ENST00000613706.5:c.1365T>A | ENSP00000484976.2:p.Ile455= | |
| ENST00000617164.5:c.1716T>A | ENSP00000480470.1:p.Ile572= | |
| ENST00000619009.5:c.365-15251T>A | ENSP00000482293.1:n.365-15251T>A | |
| ENST00000650978.1:c.3148T>A | ||
| ENST00000260947.8:c.1773T>A | ENSP00000260947.4:p.Ile591= | |
| ENST00000421162.1:c.420T>A | ENSP00000392245.1:p.Ile140= | |
| ENST00000455743.5:c.*1393T>A | ENSP00000412186.1:n.*1393T>A | |
| ENST00000465841.1:n.128T>A | ||
| ENST00000613192.1:c.74-15251T>A | ENSP00000483275.1:n.74-15251T>A | |
| ENST00000613374.4:c.363T>A | ENSP00000484464.1:p.Ile121= | |
| ENST00000613706.4:c.420T>A | ENSP00000484976.1:p.Ile140= | |
| ENST00000617164.4:c.1716T>A | ENSP00000480470.1:p.Ile572= | |
| ENST00000619009.4:c.365-15251T>A | ENSP00000482293.1:n.365-15251T>A | |
| ENST00000620057.4:c.*439T>A | ENSP00000481988.1:n.*439T>A | |
| NM_000465.3:c.1773T>A | NP_000456.2:p.Ile591= | |
| NM_001282543.1:c.1716T>A | NP_001269472.1:p.Ile572= | |
| NM_001282545.1:c.420T>A | NP_001269474.1:p.Ile140= | |
| NM_001282548.1:c.363T>A | NP_001269477.1:p.Ile121= | |
| NM_001282549.1:c.365-15251T>A | NP_001269478.1:n.365-15251T>A | |
| NR_104212.1:n.1766T>A | ||
| NR_104215.1:n.1709T>A | ||
| NR_104216.1:n.965T>A | ||
| XM_011511567.1:c.1719T>A | XP_011509869.1:p.Ile573= | |
| XM_011511568.1:c.1773T>A | XP_011509870.1:p.Ile591= | |
| XM_017004613.1:c.1872T>A | XP_016860102.1:p.Ile624= | |
| XM_017004614.1:c.1872T>A | XP_016860103.1:p.Ile624= | |
| XR_002959322.1:n.1963T>A | ||
| NM_000465.4:c.1773T>A MANE Select | NP_000456.2:p.Ile591= | |
| NM_001282543.2:c.1716T>A | NP_001269472.1:p.Ile572= | |
| NM_001282545.2:c.420T>A | NP_001269474.1:p.Ile140= | |
| NM_001282548.2:c.363T>A | NP_001269477.1:p.Ile121= | |
| NM_001282549.2:c.365-15251T>A | NP_001269478.1:n.365-15251T>A | |
| NR_104212.2:n.1738T>A | ||
| NR_104215.2:n.1681T>A | ||
| NR_104216.2:n.937T>A |