Linked Data
ClinVar Variation Id:
571323
dbSNP Id:
rs752401008
ExAC:
15:44876407 C / T
gnomAD v2:
15-44876407-C-T
gnomAD v3:
15-44584209-C-T
gnomAD v4:
15-44584209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584209C>T , CM000677.2:g.44584209C>T | GRCh38 |
| NC_000015.9:g.44876407C>T , CM000677.1:g.44876407C>T | GRCh37 |
| NC_000015.8:g.42663699C>T | NCBI36 |
| NG_008885.1:g.84470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5471G>A | ENSP00000453246.2:p.Arg1824Gln | |
| ENST00000561391.2:n.1699G>A | ||
| ENST00000682065.1:c.5327G>A | ENSP00000507025.1:p.Arg1776Gln | |
| ENST00000682460.1:c.*1728G>A | ENSP00000508334.1:n.*1728G>A | |
| ENST00000682495.1:c.*1963G>A | ENSP00000507166.1:n.*1963G>A | |
| ENST00000682669.1:c.5270G>A | ENSP00000507782.1:p.Arg1757Gln | |
| ENST00000683186.1:c.*2234G>A | ENSP00000507268.1:n.*2234G>A | |
| ENST00000683496.1:c.5471G>A | ENSP00000506968.1:p.Arg1824Gln | |
| ENST00000683734.1:c.5471G>A | ENSP00000508319.1:p.Arg1824Gln | |
| ENST00000683753.1:n.4517G>A | ||
| ENST00000684038.1:c.*1891G>A | ENSP00000507141.1:n.*1891G>A | |
| ENST00000684235.1:c.5471G>A | ENSP00000508295.1:p.Arg1824Gln | |
| ENST00000684676.1:c.5471G>A | ENSP00000506948.1:p.Arg1824Gln | |
| ENST00000261866.12:c.5471G>A MANE Select | ENSP00000261866.7:p.Arg1824Gln | |
| ENST00000261866.11:c.5471G>A | ENSP00000261866.7:p.Arg1824Gln | |
| ENST00000427534.6:c.5471G>A | ENSP00000396110.2:p.Arg1824Gln | |
| ENST00000535302.6:c.5471G>A | ENSP00000445278.2:p.Arg1824Gln | |
| ENST00000558319.5:c.5471G>A | ENSP00000453599.1:p.Arg1824Gln | |
| ENST00000559511.5:c.319G>A | ||
| ENST00000559822.1:c.243G>A | ||
| NM_001160227.1:c.5471G>A | NP_001153699.1:p.Arg1824Gln | |
| NM_025137.3:c.5471G>A | NP_079413.3:p.Arg1824Gln | |
| XM_005254695.3:c.5213G>A | XP_005254752.1:p.Arg1738Gln | |
| XM_006720700.1:c.5327G>A | XP_006720763.1:p.Arg1776Gln | |
| XM_017022634.1:c.5471G>A | XP_016878123.1:p.Arg1824Gln | |
| XM_017022636.1:c.2348G>A | XP_016878125.1:p.Arg783Gln | |
| NM_025137.4:c.5471G>A MANE Select | NP_079413.3:p.Arg1824Gln | |
| NM_001160227.2:c.5471G>A | NP_001153699.1:p.Arg1824Gln |