Linked Data
ClinVar Variation Id:
142456
dbSNP Id:
rs150121935
gnomAD v2:
2-215593605-T-A
gnomAD v3:
2-214728881-T-A
gnomAD v4:
2-214728881-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728881T>A , CM000664.2:g.214728881T>A | GRCh38 |
| NC_000002.11:g.215593605T>A , CM000664.1:g.215593605T>A | GRCh37 |
| NC_000002.10:g.215301850T>A | NCBI36 |
| NG_012047.2:g.85824A>T | |
| NG_012047.3:g.85831A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2129A>T MANE Select | ENSP00000260947.4:p.Asp710Val | |
| ENST00000421162.2:c.776A>T | ENSP00000392245.2:p.Asp259Val | |
| ENST00000613192.2:c.*192A>T | ENSP00000483275.2:n.*192A>T | |
| ENST00000613374.5:c.719A>T | ENSP00000484464.1:p.Asp240Val | |
| ENST00000613706.5:c.1721A>T | ENSP00000484976.2:p.Asp574Val | |
| ENST00000617164.5:c.2072A>T | ENSP00000480470.1:p.Asp691Val | |
| ENST00000619009.5:c.590A>T | ENSP00000482293.1:p.Asp197Val | |
| ENST00000650978.1:c.3504A>T | ||
| ENST00000260947.8:c.2129A>T | ENSP00000260947.4:p.Asp710Val | |
| ENST00000432456.5:c.272A>T | ||
| ENST00000455743.5:c.*1749A>T | ENSP00000412186.1:n.*1749A>T | |
| ENST00000471590.5:n.464A>T | ||
| ENST00000613192.1:c.299A>T | ENSP00000483275.1:p.Asp100Val | |
| ENST00000613374.4:c.719A>T | ENSP00000484464.1:p.Asp240Val | |
| ENST00000613706.4:c.776A>T | ENSP00000484976.1:p.Asp259Val | |
| ENST00000617164.4:c.2072A>T | ENSP00000480470.1:p.Asp691Val | |
| ENST00000619009.4:c.590A>T | ENSP00000482293.1:p.Asp197Val | |
| ENST00000620057.4:c.*795A>T | ENSP00000481988.1:n.*795A>T | |
| NM_000465.3:c.2129A>T | NP_000456.2:p.Asp710Val | |
| NM_001282543.1:c.2072A>T | NP_001269472.1:p.Asp691Val | |
| NM_001282545.1:c.776A>T | NP_001269474.1:p.Asp259Val | |
| NM_001282548.1:c.719A>T | NP_001269477.1:p.Asp240Val | |
| NM_001282549.1:c.590A>T | NP_001269478.1:p.Asp197Val | |
| NR_104212.1:n.2122A>T | ||
| NR_104215.1:n.2065A>T | ||
| NR_104216.1:n.1321A>T | ||
| XM_011511567.1:c.2075A>T | XP_011509869.1:p.Asp692Val | |
| XM_017004613.1:c.2228A>T | XP_016860102.1:p.Asp743Val | |
| XR_002959322.1:n.2495A>T | ||
| NM_000465.4:c.2129A>T MANE Select | NP_000456.2:p.Asp710Val | |
| NM_001282543.2:c.2072A>T | NP_001269472.1:p.Asp691Val | |
| NM_001282545.2:c.776A>T | NP_001269474.1:p.Asp259Val | |
| NM_001282548.2:c.719A>T | NP_001269477.1:p.Asp240Val | |
| NM_001282549.2:c.590A>T | NP_001269478.1:p.Asp197Val | |
| NR_104212.2:n.2094A>T | ||
| NR_104215.2:n.2037A>T | ||
| NR_104216.2:n.1293A>T |