Linked Data
ClinVar Variation Id:
495877
dbSNP Id:
rs1553622698
gnomAD v3:
2-214781467-G-A
gnomAD v4:
2-214781467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781467G>A , CM000664.2:g.214781467G>A | GRCh38 |
| NC_000002.11:g.215646191G>A , CM000664.1:g.215646191G>A | GRCh37 |
| NC_000002.10:g.215354436G>A | NCBI36 |
| NG_012047.2:g.33238C>T | |
| NG_012047.3:g.33245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.407C>T MANE Select | ENSP00000260947.4:p.Ala136Val | |
| ENST00000421162.2:c.215+15594C>T | ENSP00000392245.2:n.215+15594C>T | |
| ENST00000613192.2:c.158+27945C>T | ENSP00000483275.2:n.158+27945C>T | |
| ENST00000613374.5:c.158+27945C>T | ENSP00000484464.1:n.158+27945C>T | |
| ENST00000613706.5:c.407C>T | ENSP00000484976.2:p.Ala136Val | |
| ENST00000617164.5:c.350C>T | ENSP00000480470.1:p.Ala117Val | |
| ENST00000619009.5:c.364+10830C>T | ENSP00000482293.1:n.364+10830C>T | |
| ENST00000650978.1:c.249C>T | ||
| ENST00000260947.8:c.407C>T | ENSP00000260947.4:p.Ala136Val | |
| ENST00000421162.1:c.215+15594C>T | ENSP00000392245.1:n.215+15594C>T | |
| ENST00000455743.5:c.*27C>T | ENSP00000412186.1:n.*27C>T | |
| ENST00000471787.1:n.302C>T | ||
| ENST00000613192.1:c.73+27945C>T | ENSP00000483275.1:n.73+27945C>T | |
| ENST00000613374.4:c.158+27945C>T | ENSP00000484464.1:n.158+27945C>T | |
| ENST00000613706.4:c.215+15594C>T | ENSP00000484976.1:n.215+15594C>T | |
| ENST00000617164.4:c.350C>T | ENSP00000480470.1:p.Ala117Val | |
| ENST00000619009.4:c.364+10830C>T | ENSP00000482293.1:n.364+10830C>T | |
| ENST00000620057.4:c.364+10830C>T | ENSP00000481988.1:n.364+10830C>T | |
| NM_000465.3:c.407C>T | NP_000456.2:p.Ala136Val | |
| NM_001282543.1:c.350C>T | NP_001269472.1:p.Ala117Val | |
| NM_001282545.1:c.215+15594C>T | NP_001269474.1:n.215+15594C>T | |
| NM_001282548.1:c.158+27945C>T | NP_001269477.1:n.158+27945C>T | |
| NM_001282549.1:c.364+10830C>T | NP_001269478.1:n.364+10830C>T | |
| NR_104212.1:n.400C>T | ||
| NR_104215.1:n.343C>T | ||
| NR_104216.1:n.506+10830C>T | ||
| XM_011511567.1:c.353C>T | XP_011509869.1:p.Ala118Val | |
| XM_011511568.1:c.407C>T | XP_011509870.1:p.Ala136Val | |
| XM_017004613.1:c.506C>T | XP_016860102.1:p.Ala169Val | |
| XM_017004614.1:c.506C>T | XP_016860103.1:p.Ala169Val | |
| XR_002959322.1:n.597C>T | ||
| NM_000465.4:c.407C>T MANE Select | NP_000456.2:p.Ala136Val | |
| NM_001282543.2:c.350C>T | NP_001269472.1:p.Ala117Val | |
| NM_001282545.2:c.215+15594C>T | NP_001269474.1:n.215+15594C>T | |
| NM_001282548.2:c.158+27945C>T | NP_001269477.1:n.158+27945C>T | |
| NM_001282549.2:c.364+10830C>T | NP_001269478.1:n.364+10830C>T | |
| NR_104212.2:n.372C>T | ||
| NR_104215.2:n.315C>T | ||
| NR_104216.2:n.478+10830C>T |