Linked Data
ClinVar Variation Id:
1115
ClinVar RCV Id:
RCV000001174
dbSNP Id:
rs200079802
ExAC:
15:44855500 C / G
gnomAD v2:
15-44855500-C-G
gnomAD v3:
15-44563302-C-G
gnomAD v4:
15-44563302-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44563302C>G , CM000677.2:g.44563302C>G | GRCh38 |
| NC_000015.9:g.44855500C>G , CM000677.1:g.44855500C>G | GRCh37 |
| NC_000015.8:g.42642792C>G | NCBI36 |
| NG_008885.1:g.105377G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.843-1G>C | ENSP00000453314.2:n.843-1G>C | |
| ENST00000559511.6:c.6675-1G>C | ENSP00000453246.2:n.6675-1G>C | |
| ENST00000682065.1:c.7008-1G>C | ENSP00000507025.1:n.7008-1G>C | |
| ENST00000682460.1:c.*3409-1G>C | ENSP00000508334.1:n.*3409-1G>C | |
| ENST00000682495.1:c.*3644-1G>C | ENSP00000507166.1:n.*3644-1G>C | |
| ENST00000682669.1:c.6951-1G>C | ENSP00000507782.1:n.6951-1G>C | |
| ENST00000683186.1:c.*3915-1G>C | ENSP00000507268.1:n.*3915-1G>C | |
| ENST00000683496.1:c.*794-1G>C | ENSP00000506968.1:n.*794-1G>C | |
| ENST00000683734.1:c.*1102-1G>C | ENSP00000508319.1:n.*1102-1G>C | |
| ENST00000683753.1:n.6198-1G>C | ||
| ENST00000684038.1:c.*3572-1G>C | ENSP00000507141.1:n.*3572-1G>C | |
| ENST00000684235.1:c.7151+1245G>C | ENSP00000508295.1:n.7151+1245G>C | |
| ENST00000261866.12:c.7152-1G>C MANE Select | ENSP00000261866.7:n.7152-1G>C | |
| ENST00000261866.11:c.7152-1G>C | ENSP00000261866.7:n.7152-1G>C | |
| ENST00000427534.6:c.6755-1G>C | ENSP00000396110.2:n.6755-1G>C | |
| ENST00000535302.6:c.6813-1G>C | ENSP00000445278.2:n.6813-1G>C | |
| ENST00000559511.5:c.1523-1G>C | ||
| NM_001160227.1:c.6813-1G>C | NP_001153699.1:n.6813-1G>C | |
| NM_025137.3:c.7152-1G>C | NP_079413.3:n.7152-1G>C | |
| XM_005254695.3:c.6894-1G>C | XP_005254752.1:n.6894-1G>C | |
| XM_006720700.1:c.7008-1G>C | XP_006720763.1:n.7008-1G>C | |
| XM_017022634.1:c.7044-1G>C | XP_016878123.1:n.7044-1G>C | |
| XM_017022636.1:c.4029-1G>C | XP_016878125.1:n.4029-1G>C | |
| NM_025137.4:c.7152-1G>C MANE Select | NP_079413.3:n.7152-1G>C | |
| NM_001160227.2:c.6813-1G>C | NP_001153699.1:n.6813-1G>C |