Linked Data
ClinVar Variation Id:
1538459
ClinVar RCV Id:
RCV002169347
dbSNP Id:
rs2140946988
MyVariant Identifiers:
chr15:g.44876424T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584226T>C , CM000677.2:g.44584226T>C | GRCh38 |
| NC_000015.9:g.44876424T>C , CM000677.1:g.44876424T>C | GRCh37 |
| NC_000015.8:g.42663716T>C | NCBI36 |
| NG_008885.1:g.84453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5454A>G | ENSP00000453246.2:p.Thr1818= | |
| ENST00000561391.2:n.1682A>G | ||
| ENST00000682065.1:c.5310A>G | ENSP00000507025.1:p.Thr1770= | |
| ENST00000682460.1:c.*1711A>G | ENSP00000508334.1:n.*1711A>G | |
| ENST00000682495.1:c.*1946A>G | ENSP00000507166.1:n.*1946A>G | |
| ENST00000682669.1:c.5253A>G | ENSP00000507782.1:p.Thr1751= | |
| ENST00000683186.1:c.*2217A>G | ENSP00000507268.1:n.*2217A>G | |
| ENST00000683496.1:c.5454A>G | ENSP00000506968.1:p.Thr1818= | |
| ENST00000683734.1:c.5454A>G | ENSP00000508319.1:p.Thr1818= | |
| ENST00000683753.1:n.4500A>G | ||
| ENST00000684038.1:c.*1874A>G | ENSP00000507141.1:n.*1874A>G | |
| ENST00000684235.1:c.5454A>G | ENSP00000508295.1:p.Thr1818= | |
| ENST00000684676.1:c.5454A>G | ENSP00000506948.1:p.Thr1818= | |
| ENST00000261866.12:c.5454A>G MANE Select | ENSP00000261866.7:p.Thr1818= | |
| ENST00000261866.11:c.5454A>G | ENSP00000261866.7:p.Thr1818= | |
| ENST00000427534.6:c.5454A>G | ENSP00000396110.2:p.Thr1818= | |
| ENST00000535302.6:c.5454A>G | ENSP00000445278.2:p.Thr1818= | |
| ENST00000558319.5:c.5454A>G | ENSP00000453599.1:p.Thr1818= | |
| ENST00000559511.5:c.302A>G | ||
| ENST00000559822.1:c.226A>G | ||
| NM_001160227.1:c.5454A>G | NP_001153699.1:p.Thr1818= | |
| NM_025137.3:c.5454A>G | NP_079413.3:p.Thr1818= | |
| XM_005254695.3:c.5196A>G | XP_005254752.1:p.Thr1732= | |
| XM_006720700.1:c.5310A>G | XP_006720763.1:p.Thr1770= | |
| XM_017022634.1:c.5454A>G | XP_016878123.1:p.Thr1818= | |
| XM_017022636.1:c.2331A>G | XP_016878125.1:p.Thr777= | |
| NM_025137.4:c.5454A>G MANE Select | NP_079413.3:p.Thr1818= | |
| NM_001160227.2:c.5454A>G | NP_001153699.1:p.Thr1818= |