Linked Data
ClinVar Variation Id:
466567
ClinVar RCV Id:
RCV000535276
dbSNP Id:
rs1555446078
gnomAD v4:
15-44564548-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564548T>A , CM000677.2:g.44564548T>A | GRCh38 |
| NC_000015.9:g.44856746T>A , CM000677.1:g.44856746T>A | GRCh37 |
| NC_000015.8:g.42644038T>A | NCBI36 |
| NG_008885.1:g.104131A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.841A>T | ENSP00000453314.2:p.Lys281Ter | |
| ENST00000559511.6:c.6673A>T | ENSP00000453246.2:p.Lys2225Ter | |
| ENST00000682065.1:c.7006A>T | ENSP00000507025.1:p.Lys2336Ter | |
| ENST00000682460.1:c.*3407A>T | ENSP00000508334.1:n.*3407A>T | |
| ENST00000682495.1:c.*3642A>T | ENSP00000507166.1:n.*3642A>T | |
| ENST00000682669.1:c.6949A>T | ENSP00000507782.1:p.Lys2317Ter | |
| ENST00000683186.1:c.*3913A>T | ENSP00000507268.1:n.*3913A>T | |
| ENST00000683496.1:c.*792A>T | ENSP00000506968.1:n.*792A>T | |
| ENST00000683734.1:c.*1100A>T | ENSP00000508319.1:n.*1100A>T | |
| ENST00000683753.1:n.6196A>T | ||
| ENST00000684038.1:c.*3570A>T | ENSP00000507141.1:n.*3570A>T | |
| ENST00000684235.1:c.7150A>T | ENSP00000508295.1:p.Lys2384Ter | |
| ENST00000261866.12:c.7150A>T MANE Select | ENSP00000261866.7:p.Lys2384Ter | |
| ENST00000261866.11:c.7150A>T | ENSP00000261866.7:p.Lys2384Ter | |
| ENST00000427534.6:c.6755-1247A>T | ENSP00000396110.2:n.6755-1247A>T | |
| ENST00000535302.6:c.6811A>T | ENSP00000445278.2:p.Lys2271Ter | |
| ENST00000559511.5:c.1521A>T | ||
| NM_001160227.1:c.6811A>T | NP_001153699.1:p.Lys2271Ter | |
| NM_025137.3:c.7150A>T | NP_079413.3:p.Lys2384Ter | |
| XM_005254695.3:c.6892A>T | XP_005254752.1:p.Lys2298Ter | |
| XM_006720700.1:c.7006A>T | XP_006720763.1:p.Lys2336Ter | |
| XM_017022634.1:c.7042A>T | XP_016878123.1:p.Lys2348Ter | |
| XM_017022636.1:c.4027A>T | XP_016878125.1:p.Lys1343Ter | |
| NM_025137.4:c.7150A>T MANE Select | NP_079413.3:p.Lys2384Ter | |
| NM_001160227.2:c.6811A>T | NP_001153699.1:p.Lys2271Ter |