Linked Data
ClinVar Variation Id:
141739
dbSNP Id:
rs587781976
ExAC:
2:215632365 T / C
gnomAD v2:
2-215632365-T-C
gnomAD v3:
2-214767641-T-C
gnomAD v4:
2-214767641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214767641T>C , CM000664.2:g.214767641T>C | GRCh38 |
| NC_000002.11:g.215632365T>C , CM000664.1:g.215632365T>C | GRCh37 |
| NC_000002.10:g.215340610T>C | NCBI36 |
| NG_012047.2:g.47064A>G | |
| NG_012047.3:g.47071A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1409A>G MANE Select | ENSP00000260947.4:p.Asn470Ser | |
| ENST00000421162.2:c.216-15086A>G | ENSP00000392245.2:n.216-15086A>G | |
| ENST00000613192.2:c.159-37133A>G | ENSP00000483275.2:n.159-37133A>G | |
| ENST00000613374.5:c.159-15086A>G | ENSP00000484464.1:n.159-15086A>G | |
| ENST00000613706.5:c.1001A>G | ENSP00000484976.2:p.Asn334Ser | |
| ENST00000617164.5:c.1352A>G | ENSP00000480470.1:p.Asn451Ser | |
| ENST00000619009.5:c.364+24656A>G | ENSP00000482293.1:n.364+24656A>G | |
| ENST00000650978.1:c.2784A>G | ||
| ENST00000260947.8:c.1409A>G | ENSP00000260947.4:p.Asn470Ser | |
| ENST00000421162.1:c.216-15086A>G | ENSP00000392245.1:n.216-15086A>G | |
| ENST00000455743.5:c.*1029A>G | ENSP00000412186.1:n.*1029A>G | |
| ENST00000613192.1:c.74-37133A>G | ENSP00000483275.1:n.74-37133A>G | |
| ENST00000613374.4:c.159-15086A>G | ENSP00000484464.1:n.159-15086A>G | |
| ENST00000613706.4:c.216-15086A>G | ENSP00000484976.1:n.216-15086A>G | |
| ENST00000617164.4:c.1352A>G | ENSP00000480470.1:p.Asn451Ser | |
| ENST00000619009.4:c.364+24656A>G | ENSP00000482293.1:n.364+24656A>G | |
| ENST00000620057.4:c.*75A>G | ENSP00000481988.1:n.*75A>G | |
| NM_000465.3:c.1409A>G | NP_000456.2:p.Asn470Ser | |
| NM_001282543.1:c.1352A>G | NP_001269472.1:p.Asn451Ser | |
| NM_001282545.1:c.216-15086A>G | NP_001269474.1:n.216-15086A>G | |
| NM_001282548.1:c.159-15086A>G | NP_001269477.1:n.159-15086A>G | |
| NM_001282549.1:c.364+24656A>G | NP_001269478.1:n.364+24656A>G | |
| NR_104212.1:n.1402A>G | ||
| NR_104215.1:n.1345A>G | ||
| NR_104216.1:n.601A>G | ||
| XM_011511567.1:c.1355A>G | XP_011509869.1:p.Asn452Ser | |
| XM_011511568.1:c.1409A>G | XP_011509870.1:p.Asn470Ser | |
| XM_017004613.1:c.1508A>G | XP_016860102.1:p.Asn503Ser | |
| XM_017004614.1:c.1508A>G | XP_016860103.1:p.Asn503Ser | |
| XR_002959322.1:n.1599A>G | ||
| NM_000465.4:c.1409A>G MANE Select | NP_000456.2:p.Asn470Ser | |
| NM_001282543.2:c.1352A>G | NP_001269472.1:p.Asn451Ser | |
| NM_001282545.2:c.216-15086A>G | NP_001269474.1:n.216-15086A>G | |
| NM_001282548.2:c.159-15086A>G | NP_001269477.1:n.159-15086A>G | |
| NM_001282549.2:c.364+24656A>G | NP_001269478.1:n.364+24656A>G | |
| NR_104212.2:n.1374A>G | ||
| NR_104215.2:n.1317A>G | ||
| NR_104216.2:n.573A>G |