Linked Data
ClinVar Variation Id:
1603186
ClinVar RCV Id:
RCV002141852
dbSNP Id:
rs776619212
ExAC:
19:36398135 G / A
gnomAD v2:
19-36398135-G-A
gnomAD v3:
19-35907233-G-A
gnomAD v4:
19-35907233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907233G>A , CM000681.2:g.35907233G>A | GRCh38 |
| NC_000019.9:g.36398135G>A , CM000681.1:g.36398135G>A | GRCh37 |
| NC_000019.8:g.41089975G>A | NCBI36 |
| NG_009304.1:g.6052C>T , LRG_607:g.6052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.261C>T MANE Select | ENSP00000262629.3:p.Thr87= | |
| ENST00000262629.8:c.261C>T | ENSP00000262629.3:p.Thr87= | |
| ENST00000424586.7:c.225C>T | ENSP00000402371.3:p.Thr75= | |
| ENST00000544690.6:c.228C>T | ENSP00000445332.1:p.Thr76= | |
| ENST00000585901.6:c.354C>T | ENSP00000468608.1:p.Thr118= | |
| ENST00000586946.1:c.*143C>T | ENSP00000465656.1:n.*143C>T | |
| ENST00000587837.5:c.*146C>T | ENSP00000465081.1:n.*146C>T | |
| ENST00000588439.1:n.405C>T | ||
| ENST00000589517.1:c.258C>T | ENSP00000468447.1:p.Thr86= | |
| NM_001173514.1:c.228C>T | NP_001166985.1:p.Thr76= | |
| NM_001173515.1:c.225C>T | NP_001166986.1:p.Thr75= | |
| NM_003332.3:c.261C>T , LRG_607t1:c.261C>T | NP_003323.1:p.Thr87= | |
| NM_198125.2:c.258C>T | NP_937758.1:p.Thr86= | |
| NR_033390.1:n.302C>T | ||
| NM_001173514.2:c.228C>T | NP_001166985.1:p.Thr76= | |
| NM_001173515.2:c.225C>T | NP_001166986.1:p.Thr75= | |
| NM_003332.4:c.261C>T MANE Select | NP_003323.1:p.Thr87= | |
| NM_198125.3:c.258C>T | NP_937758.1:p.Thr86= | |
| NR_033390.2:n.288C>T |