Linked Data
ClinVar Variation Id:
2565205
ClinVar RCV Id:
RCV003301728
dbSNP Id:
rs747466434
ExAC:
2:215593559 T / A
gnomAD v2:
2-215593559-T-A
gnomAD v4:
2-214728835-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728835T>A , CM000664.2:g.214728835T>A | GRCh38 |
| NC_000002.11:g.215593559T>A , CM000664.1:g.215593559T>A | GRCh37 |
| NC_000002.10:g.215301804T>A | NCBI36 |
| NG_012047.2:g.85870A>T | |
| NG_012047.3:g.85877A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2175A>T MANE Select | ENSP00000260947.4:p.Arg725Ser | |
| ENST00000421162.2:c.822A>T | ENSP00000392245.2:p.Arg274Ser | |
| ENST00000613192.2:c.*238A>T | ENSP00000483275.2:n.*238A>T | |
| ENST00000613374.5:c.765A>T | ENSP00000484464.1:p.Arg255Ser | |
| ENST00000613706.5:c.1767A>T | ENSP00000484976.2:p.Arg589Ser | |
| ENST00000617164.5:c.2118A>T | ENSP00000480470.1:p.Arg706Ser | |
| ENST00000619009.5:c.636A>T | ENSP00000482293.1:p.Arg212Ser | |
| ENST00000650978.1:c.3550A>T | ||
| ENST00000260947.8:c.2175A>T | ENSP00000260947.4:p.Arg725Ser | |
| ENST00000432456.5:c.318A>T | ||
| ENST00000455743.5:c.*1795A>T | ENSP00000412186.1:n.*1795A>T | |
| ENST00000471590.5:n.510A>T | ||
| ENST00000613192.1:c.345A>T | ENSP00000483275.1:p.Arg115Ser | |
| ENST00000613374.4:c.765A>T | ENSP00000484464.1:p.Arg255Ser | |
| ENST00000613706.4:c.822A>T | ENSP00000484976.1:p.Arg274Ser | |
| ENST00000617164.4:c.2118A>T | ENSP00000480470.1:p.Arg706Ser | |
| ENST00000619009.4:c.636A>T | ENSP00000482293.1:p.Arg212Ser | |
| ENST00000620057.4:c.*841A>T | ENSP00000481988.1:n.*841A>T | |
| NM_000465.3:c.2175A>T | NP_000456.2:p.Arg725Ser | |
| NM_001282543.1:c.2118A>T | NP_001269472.1:p.Arg706Ser | |
| NM_001282545.1:c.822A>T | NP_001269474.1:p.Arg274Ser | |
| NM_001282548.1:c.765A>T | NP_001269477.1:p.Arg255Ser | |
| NM_001282549.1:c.636A>T | NP_001269478.1:p.Arg212Ser | |
| NR_104212.1:n.2168A>T | ||
| NR_104215.1:n.2111A>T | ||
| NR_104216.1:n.1367A>T | ||
| XM_011511567.1:c.2121A>T | XP_011509869.1:p.Arg707Ser | |
| XM_017004613.1:c.2274A>T | XP_016860102.1:p.Arg758Ser | |
| XR_002959322.1:n.2541A>T | ||
| NM_000465.4:c.2175A>T MANE Select | NP_000456.2:p.Arg725Ser | |
| NM_001282543.2:c.2118A>T | NP_001269472.1:p.Arg706Ser | |
| NM_001282545.2:c.822A>T | NP_001269474.1:p.Arg274Ser | |
| NM_001282548.2:c.765A>T | NP_001269477.1:p.Arg255Ser | |
| NM_001282549.2:c.636A>T | NP_001269478.1:p.Arg212Ser | |
| NR_104212.2:n.2140A>T | ||
| NR_104215.2:n.2083A>T | ||
| NR_104216.2:n.1339A>T |