Linked Data
ClinVar Variation Id:
166736
dbSNP Id:
rs150395094
ExAC:
15:73027466 A / G
gnomAD v2:
15-73027466-A-G
gnomAD v3:
15-72735125-A-G
gnomAD v4:
15-72735125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72735125A>G , CM000677.2:g.72735125A>G | GRCh38 |
| NC_000015.9:g.73027466A>G , CM000677.1:g.73027466A>G | GRCh37 |
| NC_000015.8:g.70814519A>G | NCBI36 |
| NG_009416.2:g.53941A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1049A>G MANE Select | ENSP00000268057.4:p.Asn350Ser | |
| ENST00000268057.8:c.1049A>G | ENSP00000268057.4:p.Asn350Ser | |
| ENST00000395205.6:c.533A>G | ENSP00000378631.3:p.Asn178Ser | |
| ENST00000562084.5:c.*1128A>G | ENSP00000454718.1:n.*1128A>G | |
| ENST00000562219.1:n.484A>G | ||
| ENST00000566197.1:c.94A>G | ||
| ENST00000566400.5:c.*939A>G | ENSP00000456759.1:n.*939A>G | |
| ENST00000567279.5:c.*903A>G | ENSP00000456664.1:n.*903A>G | |
| ENST00000569151.1:n.183A>G | ||
| NM_001252678.1:c.533A>G | NP_001239607.1:p.Asn178Ser | |
| NM_033028.4:c.1049A>G | NP_149017.2:p.Asn350Ser | |
| NR_045565.1:n.1156A>G | ||
| NR_045566.1:n.1411A>G | ||
| XM_006720625.2:c.980A>G | XP_006720688.1:p.Asn327Ser | |
| XM_011521848.1:c.533A>G | XP_011520150.1:p.Asn178Ser | |
| XM_011521849.1:c.533A>G | XP_011520151.1:p.Asn178Ser | |
| XM_011521850.1:c.533A>G | XP_011520152.1:p.Asn178Ser | |
| XM_011521851.1:c.317A>G | XP_011520153.1:p.Asn106Ser | |
| NM_001320665.1:c.980A>G | NP_001307594.1:p.Asn327Ser | |
| XM_017022450.1:c.1004A>G | XP_016877939.1:p.Asn335Ser | |
| XM_017022452.1:c.533A>G | XP_016877941.1:p.Asn178Ser | |
| XM_017022453.1:c.533A>G | XP_016877942.1:p.Asn178Ser | |
| XM_017022454.1:c.533A>G | XP_016877943.1:p.Asn178Ser | |
| NM_033028.5:c.1049A>G MANE Select | NP_149017.2:p.Asn350Ser | |
| NM_001252678.2:c.533A>G | NP_001239607.1:p.Asn178Ser | |
| NM_001320665.2:c.980A>G | NP_001307594.1:p.Asn327Ser | |
| NR_045565.2:n.1128A>G | ||
| NR_045566.2:n.1383A>G |