Linked Data
ClinVar Variation Id:
800130
ClinVar RCV Id:
RCV000983767
dbSNP Id:
rs1271281447
gnomAD v2:
15-44862715-C-T
gnomAD v3:
15-44570517-C-T
gnomAD v4:
15-44570517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570517C>T , CM000677.2:g.44570517C>T | GRCh38 |
| NC_000015.9:g.44862715C>T , CM000677.1:g.44862715C>T | GRCh37 |
| NC_000015.8:g.42650007C>T | NCBI36 |
| NG_008885.1:g.98162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.276+8G>A | ENSP00000453314.2:n.276+8G>A | |
| ENST00000559511.6:c.6000+8G>A | ENSP00000453246.2:n.6000+8G>A | |
| ENST00000682065.1:c.6333+8G>A | ENSP00000507025.1:n.6333+8G>A | |
| ENST00000682460.1:c.*2734+8G>A | ENSP00000508334.1:n.*2734+8G>A | |
| ENST00000682495.1:c.*2969+8G>A | ENSP00000507166.1:n.*2969+8G>A | |
| ENST00000682669.1:c.6276+8G>A | ENSP00000507782.1:n.6276+8G>A | |
| ENST00000683186.1:c.*3240+8G>A | ENSP00000507268.1:n.*3240+8G>A | |
| ENST00000683496.1:c.*119+8G>A | ENSP00000506968.1:n.*119+8G>A | |
| ENST00000683734.1:c.*427+8G>A | ENSP00000508319.1:n.*427+8G>A | |
| ENST00000683753.1:n.5523+8G>A | ||
| ENST00000684038.1:c.*2897+8G>A | ENSP00000507141.1:n.*2897+8G>A | |
| ENST00000684235.1:c.6477+8G>A | ENSP00000508295.1:n.6477+8G>A | |
| ENST00000261866.12:c.6477+8G>A MANE Select | ENSP00000261866.7:n.6477+8G>A | |
| ENST00000261866.11:c.6477+8G>A | ENSP00000261866.7:n.6477+8G>A | |
| ENST00000427534.6:c.6477+8G>A | ENSP00000396110.2:n.6477+8G>A | |
| ENST00000535302.6:c.6138+8G>A | ENSP00000445278.2:n.6138+8G>A | |
| ENST00000558138.1:c.276+8G>A | ENSP00000453314.1:n.276+8G>A | |
| ENST00000559347.1:n.306+8G>A | ||
| ENST00000559511.5:c.848+8G>A | ||
| ENST00000561268.5:n.275+2166G>A | ||
| NM_001160227.1:c.6138+8G>A | NP_001153699.1:n.6138+8G>A | |
| NM_025137.3:c.6477+8G>A | NP_079413.3:n.6477+8G>A | |
| XM_005254695.3:c.6219+8G>A | XP_005254752.1:n.6219+8G>A | |
| XM_006720700.1:c.6333+8G>A | XP_006720763.1:n.6333+8G>A | |
| XM_017022634.1:c.6477+8G>A | XP_016878123.1:n.6477+8G>A | |
| XM_017022636.1:c.3354+8G>A | XP_016878125.1:n.3354+8G>A | |
| NM_025137.4:c.6477+8G>A MANE Select | NP_079413.3:n.6477+8G>A | |
| NM_001160227.2:c.6138+8G>A | NP_001153699.1:n.6138+8G>A |