Linked Data
ClinVar Variation Id:
316086
ClinVar RCV Id:
RCV000395913
dbSNP Id:
rs886051180
gnomAD v4:
15-44573751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573751A>G , CM000677.2:g.44573751A>G | GRCh38 |
| NC_000015.9:g.44865949A>G , CM000677.1:g.44865949A>G | GRCh37 |
| NC_000015.8:g.42653241A>G | NCBI36 |
| NG_008885.1:g.94928T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-3093T>C | ENSP00000453246.2:n.5867-3093T>C | |
| ENST00000561391.2:n.2235-6T>C | ||
| ENST00000682065.1:c.5863-6T>C | ENSP00000507025.1:n.5863-6T>C | |
| ENST00000682460.1:c.*2264-6T>C | ENSP00000508334.1:n.*2264-6T>C | |
| ENST00000682495.1:c.*2499-6T>C | ENSP00000507166.1:n.*2499-6T>C | |
| ENST00000682669.1:c.5806-6T>C | ENSP00000507782.1:n.5806-6T>C | |
| ENST00000683186.1:c.*2770-6T>C | ENSP00000507268.1:n.*2770-6T>C | |
| ENST00000683496.1:c.6006+1151T>C | ENSP00000506968.1:n.6006+1151T>C | |
| ENST00000683734.1:c.5867-6T>C | ENSP00000508319.1:n.5867-6T>C | |
| ENST00000683753.1:n.5053-6T>C | ||
| ENST00000684038.1:c.*2427-6T>C | ENSP00000507141.1:n.*2427-6T>C | |
| ENST00000684235.1:c.6007-6T>C | ENSP00000508295.1:n.6007-6T>C | |
| ENST00000684676.1:c.*156-6T>C | ENSP00000506948.1:n.*156-6T>C | |
| ENST00000261866.12:c.6007-6T>C MANE Select | ENSP00000261866.7:n.6007-6T>C | |
| ENST00000261866.11:c.6007-6T>C | ENSP00000261866.7:n.6007-6T>C | |
| ENST00000427534.6:c.6007-6T>C | ENSP00000396110.2:n.6007-6T>C | |
| ENST00000535302.6:c.5867-931T>C | ENSP00000445278.2:n.5867-931T>C | |
| ENST00000558080.1:n.372-6T>C | ||
| ENST00000558319.5:c.6007-6T>C | ENSP00000453599.1:n.6007-6T>C | |
| ENST00000559511.5:c.715-3093T>C | ||
| ENST00000559822.1:c.550-6T>C | ||
| ENST00000559933.1:n.70T>C | ||
| NM_001160227.1:c.5867-931T>C | NP_001153699.1:n.5867-931T>C | |
| NM_025137.3:c.6007-6T>C | NP_079413.3:n.6007-6T>C | |
| XM_005254695.3:c.5749-6T>C | XP_005254752.1:n.5749-6T>C | |
| XM_006720700.1:c.5863-6T>C | XP_006720763.1:n.5863-6T>C | |
| XM_017022634.1:c.6007-6T>C | XP_016878123.1:n.6007-6T>C | |
| XM_017022636.1:c.2884-6T>C | XP_016878125.1:n.2884-6T>C | |
| NM_025137.4:c.6007-6T>C MANE Select | NP_079413.3:n.6007-6T>C | |
| NM_001160227.2:c.5867-931T>C | NP_001153699.1:n.5867-931T>C |