Linked Data
ClinVar Variation Id:
3014645
ClinVar RCV Id:
RCV003878268
MyVariant Identifiers:
chr15:g.44862762T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570564T>C , CM000677.2:g.44570564T>C | GRCh38 |
| NC_000015.9:g.44862762T>C , CM000677.1:g.44862762T>C | GRCh37 |
| NC_000015.8:g.42650054T>C | NCBI36 |
| NG_008885.1:g.98115A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.237A>G | ENSP00000453314.2:p.Thr79= | |
| ENST00000559511.6:c.5961A>G | ENSP00000453246.2:p.Thr1987= | |
| ENST00000682065.1:c.6294A>G | ENSP00000507025.1:p.Thr2098= | |
| ENST00000682460.1:c.*2695A>G | ENSP00000508334.1:n.*2695A>G | |
| ENST00000682495.1:c.*2930A>G | ENSP00000507166.1:n.*2930A>G | |
| ENST00000682669.1:c.6237A>G | ENSP00000507782.1:p.Thr2079= | |
| ENST00000683186.1:c.*3201A>G | ENSP00000507268.1:n.*3201A>G | |
| ENST00000683496.1:c.*80A>G | ENSP00000506968.1:n.*80A>G | |
| ENST00000683734.1:c.*388A>G | ENSP00000508319.1:n.*388A>G | |
| ENST00000683753.1:n.5484A>G | ||
| ENST00000684038.1:c.*2858A>G | ENSP00000507141.1:n.*2858A>G | |
| ENST00000684235.1:c.6438A>G | ENSP00000508295.1:p.Thr2146= | |
| ENST00000261866.12:c.6438A>G MANE Select | ENSP00000261866.7:p.Thr2146= | |
| ENST00000261866.11:c.6438A>G | ENSP00000261866.7:p.Thr2146= | |
| ENST00000427534.6:c.6438A>G | ENSP00000396110.2:p.Thr2146= | |
| ENST00000535302.6:c.6099A>G | ENSP00000445278.2:p.Thr2033= | |
| ENST00000558138.1:c.237A>G | ENSP00000453314.1:p.Thr79= | |
| ENST00000559347.1:n.267A>G | ||
| ENST00000559511.5:c.809A>G | ||
| ENST00000559933.1:n.507A>G | ||
| ENST00000561268.5:n.275+2119A>G | ||
| NM_001160227.1:c.6099A>G | NP_001153699.1:p.Thr2033= | |
| NM_025137.3:c.6438A>G | NP_079413.3:p.Thr2146= | |
| XM_005254695.3:c.6180A>G | XP_005254752.1:p.Thr2060= | |
| XM_006720700.1:c.6294A>G | XP_006720763.1:p.Thr2098= | |
| XM_017022634.1:c.6438A>G | XP_016878123.1:p.Thr2146= | |
| XM_017022636.1:c.3315A>G | XP_016878125.1:p.Thr1105= | |
| NM_025137.4:c.6438A>G MANE Select | NP_079413.3:p.Thr2146= | |
| NM_001160227.2:c.6099A>G | NP_001153699.1:p.Thr2033= |