Linked Data
ClinVar Variation Id:
220388
dbSNP Id:
rs61732733
ExAC:
15:44855454 C / T
gnomAD v2:
15-44855454-C-T
gnomAD v3:
15-44563256-C-T
gnomAD v4:
15-44563256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44563256C>T , CM000677.2:g.44563256C>T | GRCh38 |
| NC_000015.9:g.44855454C>T , CM000677.1:g.44855454C>T | GRCh37 |
| NC_000015.8:g.42642746C>T | NCBI36 |
| NG_008885.1:g.105423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.888G>A | ENSP00000453314.2:p.Lys296= | |
| ENST00000559511.6:c.6720G>A | ENSP00000453246.2:p.Lys2240= | |
| ENST00000682065.1:c.7053G>A | ENSP00000507025.1:p.Lys2351= | |
| ENST00000682460.1:c.*3454G>A | ENSP00000508334.1:n.*3454G>A | |
| ENST00000682495.1:c.*3689G>A | ENSP00000507166.1:n.*3689G>A | |
| ENST00000682669.1:c.6996G>A | ENSP00000507782.1:p.Lys2332= | |
| ENST00000683186.1:c.*3960G>A | ENSP00000507268.1:n.*3960G>A | |
| ENST00000683496.1:c.*839G>A | ENSP00000506968.1:n.*839G>A | |
| ENST00000683734.1:c.*1147G>A | ENSP00000508319.1:n.*1147G>A | |
| ENST00000683753.1:n.6243G>A | ||
| ENST00000684038.1:c.*3617G>A | ENSP00000507141.1:n.*3617G>A | |
| ENST00000684235.1:c.7151+1291G>A | ENSP00000508295.1:n.7151+1291G>A | |
| ENST00000261866.12:c.7197G>A MANE Select | ENSP00000261866.7:p.Lys2399= | |
| ENST00000261866.11:c.7197G>A | ENSP00000261866.7:p.Lys2399= | |
| ENST00000427534.6:c.6800G>A | ENSP00000396110.2:n.6800G>A | |
| ENST00000535302.6:c.6858G>A | ENSP00000445278.2:p.Lys2286= | |
| ENST00000559511.5:c.1568G>A | ||
| NM_001160227.1:c.6858G>A | NP_001153699.1:p.Lys2286= | |
| NM_025137.3:c.7197G>A | NP_079413.3:p.Lys2399= | |
| XM_005254695.3:c.6939G>A | XP_005254752.1:p.Lys2313= | |
| XM_006720700.1:c.7053G>A | XP_006720763.1:p.Lys2351= | |
| XM_017022634.1:c.7089G>A | XP_016878123.1:p.Lys2363= | |
| XM_017022636.1:c.4074G>A | XP_016878125.1:p.Lys1358= | |
| NM_025137.4:c.7197G>A MANE Select | NP_079413.3:p.Lys2399= | |
| NM_001160227.2:c.6858G>A | NP_001153699.1:p.Lys2286= |