Linked Data
ClinVar Variation Id:
142336
dbSNP Id:
rs201140528
ExAC:
2:215609859 T / A
gnomAD v2:
2-215609859-T-A
gnomAD v3:
2-214745135-T-A
gnomAD v4:
2-214745135-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745135T>A , CM000664.2:g.214745135T>A | GRCh38 |
| NC_000002.11:g.215609859T>A , CM000664.1:g.215609859T>A | GRCh37 |
| NC_000002.10:g.215318104T>A | NCBI36 |
| NG_012047.2:g.69570A>T | |
| NG_012047.3:g.69577A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1835A>T MANE Select | ENSP00000260947.4:p.Asp612Val | |
| ENST00000421162.2:c.482A>T | ENSP00000392245.2:p.Asp161Val | |
| ENST00000613192.2:c.159-14627A>T | ENSP00000483275.2:n.159-14627A>T | |
| ENST00000613374.5:c.425A>T | ENSP00000484464.1:p.Asp142Val | |
| ENST00000613706.5:c.1427A>T | ENSP00000484976.2:p.Asp476Val | |
| ENST00000617164.5:c.1778A>T | ENSP00000480470.1:p.Asp593Val | |
| ENST00000619009.5:c.365-14627A>T | ENSP00000482293.1:n.365-14627A>T | |
| ENST00000650978.1:c.3210A>T | ||
| ENST00000260947.8:c.1835A>T | ENSP00000260947.4:p.Asp612Val | |
| ENST00000421162.1:c.482A>T | ENSP00000392245.1:p.Asp161Val | |
| ENST00000455743.5:c.*1455A>T | ENSP00000412186.1:n.*1455A>T | |
| ENST00000613192.1:c.74-14627A>T | ENSP00000483275.1:n.74-14627A>T | |
| ENST00000613374.4:c.425A>T | ENSP00000484464.1:p.Asp142Val | |
| ENST00000613706.4:c.482A>T | ENSP00000484976.1:p.Asp161Val | |
| ENST00000617164.4:c.1778A>T | ENSP00000480470.1:p.Asp593Val | |
| ENST00000619009.4:c.365-14627A>T | ENSP00000482293.1:n.365-14627A>T | |
| ENST00000620057.4:c.*501A>T | ENSP00000481988.1:n.*501A>T | |
| NM_000465.3:c.1835A>T | NP_000456.2:p.Asp612Val | |
| NM_001282543.1:c.1778A>T | NP_001269472.1:p.Asp593Val | |
| NM_001282545.1:c.482A>T | NP_001269474.1:p.Asp161Val | |
| NM_001282548.1:c.425A>T | NP_001269477.1:p.Asp142Val | |
| NM_001282549.1:c.365-14627A>T | NP_001269478.1:n.365-14627A>T | |
| NR_104212.1:n.1828A>T | ||
| NR_104215.1:n.1771A>T | ||
| NR_104216.1:n.1027A>T | ||
| XM_011511567.1:c.1781A>T | XP_011509869.1:p.Asp594Val | |
| XM_011511568.1:c.1835A>T | XP_011509870.1:p.Asp612Val | |
| XM_017004613.1:c.1934A>T | XP_016860102.1:p.Asp645Val | |
| XM_017004614.1:c.1934A>T | XP_016860103.1:p.Asp645Val | |
| XR_002959322.1:n.2025A>T | ||
| NM_000465.4:c.1835A>T MANE Select | NP_000456.2:p.Asp612Val | |
| NM_001282543.2:c.1778A>T | NP_001269472.1:p.Asp593Val | |
| NM_001282545.2:c.482A>T | NP_001269474.1:p.Asp161Val | |
| NM_001282548.2:c.425A>T | NP_001269477.1:p.Asp142Val | |
| NM_001282549.2:c.365-14627A>T | NP_001269478.1:n.365-14627A>T | |
| NR_104212.2:n.1800A>T | ||
| NR_104215.2:n.1743A>T | ||
| NR_104216.2:n.999A>T |