Linked Data
ClinVar Variation Id:
534874
ClinVar RCV Id:
RCV000642571
dbSNP Id:
rs1555447432
gnomAD v4:
15-44572682-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44572682C>A , CM000677.2:g.44572682C>A | GRCh38 |
| NC_000015.9:g.44864880C>A , CM000677.1:g.44864880C>A | GRCh37 |
| NC_000015.8:g.42652172C>A | NCBI36 |
| NG_008885.1:g.95997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.142+1G>T | ENSP00000453314.2:n.142+1G>T | |
| ENST00000559511.6:c.5867-2024G>T | ENSP00000453246.2:n.5867-2024G>T | |
| ENST00000682065.1:c.6199+1G>T | ENSP00000507025.1:n.6199+1G>T | |
| ENST00000682460.1:c.*2600+1G>T | ENSP00000508334.1:n.*2600+1G>T | |
| ENST00000682495.1:c.*2835+1G>T | ENSP00000507166.1:n.*2835+1G>T | |
| ENST00000682669.1:c.6142+1G>T | ENSP00000507782.1:n.6142+1G>T | |
| ENST00000683186.1:c.*3106+1G>T | ENSP00000507268.1:n.*3106+1G>T | |
| ENST00000683496.1:c.6007-2030G>T | ENSP00000506968.1:n.6007-2030G>T | |
| ENST00000683734.1:c.*293+1G>T | ENSP00000508319.1:n.*293+1G>T | |
| ENST00000683753.1:n.5389+1G>T | ||
| ENST00000684038.1:c.*2763+1G>T | ENSP00000507141.1:n.*2763+1G>T | |
| ENST00000684235.1:c.6343+1G>T | ENSP00000508295.1:n.6343+1G>T | |
| ENST00000261866.12:c.6343+1G>T MANE Select | ENSP00000261866.7:n.6343+1G>T | |
| ENST00000261866.11:c.6343+1G>T | ENSP00000261866.7:n.6343+1G>T | |
| ENST00000427534.6:c.6343+1G>T | ENSP00000396110.2:n.6343+1G>T | |
| ENST00000535302.6:c.6004+1G>T | ENSP00000445278.2:n.6004+1G>T | |
| ENST00000558138.1:c.142+1G>T | ENSP00000453314.1:n.142+1G>T | |
| ENST00000559511.5:c.715-2024G>T | ||
| ENST00000559933.1:n.412+1G>T | ||
| ENST00000561268.5:n.275+1G>T | ||
| NM_001160227.1:c.6004+1G>T | NP_001153699.1:n.6004+1G>T | |
| NM_025137.3:c.6343+1G>T | NP_079413.3:n.6343+1G>T | |
| XM_005254695.3:c.6085+1G>T | XP_005254752.1:n.6085+1G>T | |
| XM_006720700.1:c.6199+1G>T | XP_006720763.1:n.6199+1G>T | |
| XM_017022634.1:c.6343+1G>T | XP_016878123.1:n.6343+1G>T | |
| XM_017022636.1:c.3220+1G>T | XP_016878125.1:n.3220+1G>T | |
| NM_025137.4:c.6343+1G>T MANE Select | NP_079413.3:n.6343+1G>T | |
| NM_001160227.2:c.6004+1G>T | NP_001153699.1:n.6004+1G>T |