Linked Data
ClinVar Variation Id:
2053067
dbSNP Id:
rs200317919
ExAC:
16:14038675 C / A
gnomAD v2:
16-14038675-C-A
gnomAD v3:
16-13944818-C-A
gnomAD v4:
16-13944818-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944818C>A , CM000678.2:g.13944818C>A | GRCh38 |
| NC_000016.9:g.14038675C>A , CM000678.1:g.14038675C>A | GRCh37 |
| NC_000016.8:g.13946176C>A | NCBI36 |
| NG_011442.1:g.29662C>A , LRG_463:g.29662C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2138C>A | ENSP00000507912.1:p.Thr713Asn | |
| ENST00000683962.1:c.*1694C>A | ENSP00000506854.1:n.*1694C>A | |
| ENST00000311895.8:c.2000C>A MANE Select | ENSP00000310520.7:p.Thr667Asn | |
| ENST00000311895.7:c.2000C>A | ENSP00000310520.7:p.Thr667Asn | |
| ENST00000389138.7:n.1277C>A | ||
| ENST00000462862.1:c.313C>A | ENSP00000461322.1:n.313C>A | |
| NM_005236.2:c.2000C>A , LRG_463t1:c.2000C>A | NP_005227.1:p.Thr667Asn | |
| XM_011522424.1:c.2138C>A | XP_011520726.1:p.Thr713Asn | |
| XM_011522425.1:c.1457C>A | XP_011520727.1:p.Thr486Asn | |
| XM_011522426.1:c.1211C>A | XP_011520728.1:p.Thr404Asn | |
| XM_011522427.1:c.650C>A | XP_011520729.1:p.Thr217Asn | |
| XR_932805.1:n.2159C>A | ||
| XM_011522424.3:c.2138C>A | XP_011520726.1:p.Thr713Asn | |
| XM_017023043.2:c.1211C>A | XP_016878532.1:p.Thr404Asn | |
| NM_005236.3:c.2000C>A MANE Select | NP_005227.1:p.Thr667Asn |