Linked Data
ClinVar Variation Id:
2846071
ClinVar RCV Id:
RCV003602343
gnomAD v4:
15-44584400-A-G
MyVariant Identifiers:
chr15:g.44876598A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584400A>G , CM000677.2:g.44584400A>G | GRCh38 |
| NC_000015.9:g.44876598A>G , CM000677.1:g.44876598A>G | GRCh37 |
| NC_000015.8:g.42663890A>G | NCBI36 |
| NG_008885.1:g.84279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5280T>C | ENSP00000453246.2:p.Cys1760= | |
| ENST00000561391.2:n.1508T>C | ||
| ENST00000682065.1:c.5136T>C | ENSP00000507025.1:p.Cys1712= | |
| ENST00000682460.1:c.*1537T>C | ENSP00000508334.1:n.*1537T>C | |
| ENST00000682495.1:c.*1772T>C | ENSP00000507166.1:n.*1772T>C | |
| ENST00000682669.1:c.5079T>C | ENSP00000507782.1:p.Cys1693= | |
| ENST00000683186.1:c.*2043T>C | ENSP00000507268.1:n.*2043T>C | |
| ENST00000683496.1:c.5280T>C | ENSP00000506968.1:p.Cys1760= | |
| ENST00000683734.1:c.5280T>C | ENSP00000508319.1:p.Cys1760= | |
| ENST00000683753.1:n.4326T>C | ||
| ENST00000684038.1:c.*1700T>C | ENSP00000507141.1:n.*1700T>C | |
| ENST00000684235.1:c.5280T>C | ENSP00000508295.1:p.Cys1760= | |
| ENST00000684676.1:c.5280T>C | ENSP00000506948.1:p.Cys1760= | |
| ENST00000261866.12:c.5280T>C MANE Select | ENSP00000261866.7:p.Cys1760= | |
| ENST00000261866.11:c.5280T>C | ENSP00000261866.7:p.Cys1760= | |
| ENST00000427534.6:c.5280T>C | ENSP00000396110.2:p.Cys1760= | |
| ENST00000535302.6:c.5280T>C | ENSP00000445278.2:p.Cys1760= | |
| ENST00000558319.5:c.5280T>C | ENSP00000453599.1:p.Cys1760= | |
| ENST00000558790.5:n.717T>C | ||
| ENST00000559511.5:c.128T>C | ||
| ENST00000559822.1:c.52T>C | ||
| NM_001160227.1:c.5280T>C | NP_001153699.1:p.Cys1760= | |
| NM_025137.3:c.5280T>C | NP_079413.3:p.Cys1760= | |
| XM_005254695.3:c.5022T>C | XP_005254752.1:p.Cys1674= | |
| XM_006720700.1:c.5136T>C | XP_006720763.1:p.Cys1712= | |
| XM_017022634.1:c.5280T>C | XP_016878123.1:p.Cys1760= | |
| XM_017022636.1:c.2157T>C | XP_016878125.1:p.Cys719= | |
| XR_931917.2:n.5334T>C | ||
| NM_025137.4:c.5280T>C MANE Select | NP_079413.3:p.Cys1760= | |
| NM_001160227.2:c.5280T>C | NP_001153699.1:p.Cys1760= |