Linked Data
ClinVar Variation Id:
316076
ClinVar RCV Id:
RCV000323498
dbSNP Id:
rs886051177
gnomAD v4:
15-44564706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564706G>A , CM000677.2:g.44564706G>A | GRCh38 |
| NC_000015.9:g.44856904G>A , CM000677.1:g.44856904G>A | GRCh37 |
| NC_000015.8:g.42644196G>A | NCBI36 |
| NG_008885.1:g.103973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.691-8C>T | ENSP00000453314.2:n.691-8C>T | |
| ENST00000559511.6:c.6523-8C>T | ENSP00000453246.2:n.6523-8C>T | |
| ENST00000682065.1:c.6856-8C>T | ENSP00000507025.1:n.6856-8C>T | |
| ENST00000682460.1:c.*3257-8C>T | ENSP00000508334.1:n.*3257-8C>T | |
| ENST00000682495.1:c.*3492-8C>T | ENSP00000507166.1:n.*3492-8C>T | |
| ENST00000682669.1:c.6799-8C>T | ENSP00000507782.1:n.6799-8C>T | |
| ENST00000683186.1:c.*3763-8C>T | ENSP00000507268.1:n.*3763-8C>T | |
| ENST00000683496.1:c.*642-8C>T | ENSP00000506968.1:n.*642-8C>T | |
| ENST00000683734.1:c.*950-8C>T | ENSP00000508319.1:n.*950-8C>T | |
| ENST00000683753.1:n.6046-8C>T | ||
| ENST00000684038.1:c.*3420-8C>T | ENSP00000507141.1:n.*3420-8C>T | |
| ENST00000684235.1:c.7000-8C>T | ENSP00000508295.1:n.7000-8C>T | |
| ENST00000261866.12:c.7000-8C>T MANE Select | ENSP00000261866.7:n.7000-8C>T | |
| ENST00000261866.11:c.7000-8C>T | ENSP00000261866.7:n.7000-8C>T | |
| ENST00000427534.6:c.6755-1405C>T | ENSP00000396110.2:n.6755-1405C>T | |
| ENST00000535302.6:c.6661-8C>T | ENSP00000445278.2:n.6661-8C>T | |
| ENST00000558138.1:c.691-8C>T | ENSP00000453314.1:n.691-8C>T | |
| ENST00000559511.5:c.1371-8C>T | ||
| ENST00000560299.1:n.292-8C>T | ||
| NM_001160227.1:c.6661-8C>T | NP_001153699.1:n.6661-8C>T | |
| NM_025137.3:c.7000-8C>T | NP_079413.3:n.7000-8C>T | |
| XM_005254695.3:c.6742-8C>T | XP_005254752.1:n.6742-8C>T | |
| XM_006720700.1:c.6856-8C>T | XP_006720763.1:n.6856-8C>T | |
| XM_017022634.1:c.6892-8C>T | XP_016878123.1:n.6892-8C>T | |
| XM_017022636.1:c.3877-8C>T | XP_016878125.1:n.3877-8C>T | |
| NM_025137.4:c.7000-8C>T MANE Select | NP_079413.3:n.7000-8C>T | |
| NM_001160227.2:c.6661-8C>T | NP_001153699.1:n.6661-8C>T |