Linked Data
ClinVar Variation Id:
489663
dbSNP Id:
rs187590361
gnomAD v2:
2-215595148-T-C
gnomAD v3:
2-214730424-T-C
gnomAD v4:
2-214730424-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730424T>C , CM000664.2:g.214730424T>C | GRCh38 |
| NC_000002.11:g.215595148T>C , CM000664.1:g.215595148T>C | GRCh37 |
| NC_000002.10:g.215303393T>C | NCBI36 |
| NG_012047.2:g.84281A>G | |
| NG_012047.3:g.84288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1988A>G MANE Select | ENSP00000260947.4:p.Asn663Ser | |
| ENST00000421162.2:c.635A>G | ENSP00000392245.2:p.Asn212Ser | |
| ENST00000613192.2:c.*51A>G | ENSP00000483275.2:n.*51A>G | |
| ENST00000613374.5:c.578A>G | ENSP00000484464.1:p.Asn193Ser | |
| ENST00000613706.5:c.1580A>G | ENSP00000484976.2:p.Asn527Ser | |
| ENST00000617164.5:c.1931A>G | ENSP00000480470.1:p.Asn644Ser | |
| ENST00000619009.5:c.449A>G | ENSP00000482293.1:p.Asn150Ser | |
| ENST00000650978.1:c.3363A>G | ||
| ENST00000260947.8:c.1988A>G | ENSP00000260947.4:p.Asn663Ser | |
| ENST00000421162.1:c.635A>G | ENSP00000392245.1:p.Asn212Ser | |
| ENST00000432456.5:c.85A>G | ||
| ENST00000455743.5:c.*1608A>G | ENSP00000412186.1:n.*1608A>G | |
| ENST00000471590.5:n.323A>G | ||
| ENST00000613192.1:c.158A>G | ENSP00000483275.1:p.Asn53Ser | |
| ENST00000613374.4:c.578A>G | ENSP00000484464.1:p.Asn193Ser | |
| ENST00000613706.4:c.635A>G | ENSP00000484976.1:p.Asn212Ser | |
| ENST00000617164.4:c.1931A>G | ENSP00000480470.1:p.Asn644Ser | |
| ENST00000619009.4:c.449A>G | ENSP00000482293.1:p.Asn150Ser | |
| ENST00000620057.4:c.*654A>G | ENSP00000481988.1:n.*654A>G | |
| NM_000465.3:c.1988A>G | NP_000456.2:p.Asn663Ser | |
| NM_001282543.1:c.1931A>G | NP_001269472.1:p.Asn644Ser | |
| NM_001282545.1:c.635A>G | NP_001269474.1:p.Asn212Ser | |
| NM_001282548.1:c.578A>G | NP_001269477.1:p.Asn193Ser | |
| NM_001282549.1:c.449A>G | NP_001269478.1:p.Asn150Ser | |
| NR_104212.1:n.1981A>G | ||
| NR_104215.1:n.1924A>G | ||
| NR_104216.1:n.1180A>G | ||
| XM_011511567.1:c.1934A>G | XP_011509869.1:p.Asn645Ser | |
| XM_017004613.1:c.2087A>G | XP_016860102.1:p.Asn696Ser | |
| XR_002959322.1:n.2178A>G | ||
| NM_000465.4:c.1988A>G MANE Select | NP_000456.2:p.Asn663Ser | |
| NM_001282543.2:c.1931A>G | NP_001269472.1:p.Asn644Ser | |
| NM_001282545.2:c.635A>G | NP_001269474.1:p.Asn212Ser | |
| NM_001282548.2:c.578A>G | NP_001269477.1:p.Asn193Ser | |
| NM_001282549.2:c.449A>G | NP_001269478.1:p.Asn150Ser | |
| NR_104212.2:n.1953A>G | ||
| NR_104215.2:n.1896A>G | ||
| NR_104216.2:n.1152A>G |