Linked Data
ClinVar Variation Id:
1933459
ClinVar RCV Id:
RCV002626968
gnomAD v4:
15-44570657-G-A
MyVariant Identifiers:
chr15:g.44862855G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570657G>A , CM000677.2:g.44570657G>A | GRCh38 |
| NC_000015.9:g.44862855G>A , CM000677.1:g.44862855G>A | GRCh37 |
| NC_000015.8:g.42650147G>A | NCBI36 |
| NG_008885.1:g.98022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.144C>T | ENSP00000453314.2:p.Thr48= | |
| ENST00000559511.6:c.5868C>T | ENSP00000453246.2:p.Thr1956= | |
| ENST00000682065.1:c.6201C>T | ENSP00000507025.1:p.Thr2067= | |
| ENST00000682460.1:c.*2602C>T | ENSP00000508334.1:n.*2602C>T | |
| ENST00000682495.1:c.*2837C>T | ENSP00000507166.1:n.*2837C>T | |
| ENST00000682669.1:c.6144C>T | ENSP00000507782.1:p.Thr2048= | |
| ENST00000683186.1:c.*3108C>T | ENSP00000507268.1:n.*3108C>T | |
| ENST00000683496.1:c.6007-5C>T | ENSP00000506968.1:n.6007-5C>T | |
| ENST00000683734.1:c.*295C>T | ENSP00000508319.1:n.*295C>T | |
| ENST00000683753.1:n.5391C>T | ||
| ENST00000684038.1:c.*2765C>T | ENSP00000507141.1:n.*2765C>T | |
| ENST00000684235.1:c.6345C>T | ENSP00000508295.1:p.Thr2115= | |
| ENST00000261866.12:c.6345C>T MANE Select | ENSP00000261866.7:p.Thr2115= | |
| ENST00000261866.11:c.6345C>T | ENSP00000261866.7:p.Thr2115= | |
| ENST00000427534.6:c.6345C>T | ENSP00000396110.2:p.Thr2115= | |
| ENST00000535302.6:c.6006C>T | ENSP00000445278.2:p.Thr2002= | |
| ENST00000558138.1:c.144C>T | ENSP00000453314.1:p.Thr48= | |
| ENST00000559347.1:n.174C>T | ||
| ENST00000559511.5:c.716C>T | ||
| ENST00000559933.1:n.414C>T | ||
| ENST00000561268.5:n.275+2026C>T | ||
| NM_001160227.1:c.6006C>T | NP_001153699.1:p.Thr2002= | |
| NM_025137.3:c.6345C>T | NP_079413.3:p.Thr2115= | |
| XM_005254695.3:c.6087C>T | XP_005254752.1:p.Thr2029= | |
| XM_006720700.1:c.6201C>T | XP_006720763.1:p.Thr2067= | |
| XM_017022634.1:c.6345C>T | XP_016878123.1:p.Thr2115= | |
| XM_017022636.1:c.3222C>T | XP_016878125.1:p.Thr1074= | |
| NM_025137.4:c.6345C>T MANE Select | NP_079413.3:p.Thr2115= | |
| NM_001160227.2:c.6006C>T | NP_001153699.1:p.Thr2002= |