Linked Data
ClinVar Variation Id:
2842122
ClinVar RCV Id:
RCV003602280
MyVariant Identifiers:
chr15:g.44876487C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584289C>T , CM000677.2:g.44584289C>T | GRCh38 |
| NC_000015.9:g.44876487C>T , CM000677.1:g.44876487C>T | GRCh37 |
| NC_000015.8:g.42663779C>T | NCBI36 |
| NG_008885.1:g.84390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5391G>A | ENSP00000453246.2:p.Leu1797= | |
| ENST00000561391.2:n.1619G>A | ||
| ENST00000682065.1:c.5247G>A | ENSP00000507025.1:p.Leu1749= | |
| ENST00000682460.1:c.*1648G>A | ENSP00000508334.1:n.*1648G>A | |
| ENST00000682495.1:c.*1883G>A | ENSP00000507166.1:n.*1883G>A | |
| ENST00000682669.1:c.5190G>A | ENSP00000507782.1:p.Leu1730= | |
| ENST00000683186.1:c.*2154G>A | ENSP00000507268.1:n.*2154G>A | |
| ENST00000683496.1:c.5391G>A | ENSP00000506968.1:p.Leu1797= | |
| ENST00000683734.1:c.5391G>A | ENSP00000508319.1:p.Leu1797= | |
| ENST00000683753.1:n.4437G>A | ||
| ENST00000684038.1:c.*1811G>A | ENSP00000507141.1:n.*1811G>A | |
| ENST00000684235.1:c.5391G>A | ENSP00000508295.1:p.Leu1797= | |
| ENST00000684676.1:c.5391G>A | ENSP00000506948.1:p.Leu1797= | |
| ENST00000261866.12:c.5391G>A MANE Select | ENSP00000261866.7:p.Leu1797= | |
| ENST00000261866.11:c.5391G>A | ENSP00000261866.7:p.Leu1797= | |
| ENST00000427534.6:c.5391G>A | ENSP00000396110.2:p.Leu1797= | |
| ENST00000535302.6:c.5391G>A | ENSP00000445278.2:p.Leu1797= | |
| ENST00000558319.5:c.5391G>A | ENSP00000453599.1:p.Leu1797= | |
| ENST00000558790.5:n.828G>A | ||
| ENST00000559511.5:c.239G>A | ||
| ENST00000559822.1:c.163G>A | ||
| NM_001160227.1:c.5391G>A | NP_001153699.1:p.Leu1797= | |
| NM_025137.3:c.5391G>A | NP_079413.3:p.Leu1797= | |
| XM_005254695.3:c.5133G>A | XP_005254752.1:p.Leu1711= | |
| XM_006720700.1:c.5247G>A | XP_006720763.1:p.Leu1749= | |
| XM_017022634.1:c.5391G>A | XP_016878123.1:p.Leu1797= | |
| XM_017022636.1:c.2268G>A | XP_016878125.1:p.Leu756= | |
| XR_931917.2:n.5445G>A | ||
| NM_025137.4:c.5391G>A MANE Select | NP_079413.3:p.Leu1797= | |
| NM_001160227.2:c.5391G>A | NP_001153699.1:p.Leu1797= |