Linked Data
ClinVar Variation Id:
2053778
dbSNP Id:
rs369629290
ExAC:
16:87936089 T / C
gnomAD v2:
16-87936089-T-C
gnomAD v3:
16-87902483-T-C
gnomAD v4:
16-87902483-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902483T>C , CM000678.2:g.87902483T>C | GRCh38 |
| NC_000016.9:g.87936089T>C , CM000678.1:g.87936089T>C | GRCh37 |
| NC_000016.8:g.86493590T>C | NCBI36 |
| NG_033227.1:g.39024A>G | |
| NG_033227.2:g.39047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.497A>G | ENSP00000497934.1:p.Asn166Ser | |
| ENST00000648177.1:c.378A>G | ENSP00000497626.1:p.Lys126= | |
| ENST00000649158.1:c.497A>G | ENSP00000496993.1:p.Asn166Ser | |
| ENST00000649794.3:c.497A>G MANE Select | ENSP00000498065.2:p.Asn166Ser | |
| ENST00000309893.3:c.497A>G | ENSP00000309649.2:p.Asn166Ser | |
| NM_001739.1:c.497A>G | NP_001730.1:p.Asn166Ser | |
| XM_011523309.1:c.497A>G | XP_011521611.1:p.Asn166Ser | |
| XM_011523310.1:c.497A>G | XP_011521612.1:p.Asn166Ser | |
| XR_933417.1:n.616A>G | ||
| NM_001739.2:c.497A>G MANE Select | NP_001730.1:p.Asn166Ser | |
| XM_011523309.2:c.497A>G | XP_011521611.1:p.Asn166Ser | |
| XM_017023646.1:c.497A>G | XP_016879135.1:p.Asn166Ser | |
| XM_024450434.1:c.119A>G | XP_024306202.1:p.Asn40Ser | |
| XR_002957839.1:n.622A>G | ||
| NM_001367225.1:c.497A>G | NP_001354154.1:p.Asn166Ser | |
| NR_159798.1:n.576A>G | ||
| NR_159799.1:n.457A>G |