Linked Data
ClinVar Variation Id:
165317
dbSNP Id:
rs727503446
ExAC:
15:43903187 A / C
gnomAD v2:
15-43903187-A-C
gnomAD v3:
15-43610989-A-C
gnomAD v4:
15-43610989-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43610989A>C , CM000677.2:g.43610989A>C | GRCh38 |
| NC_000015.9:g.43903187A>C , CM000677.1:g.43903187A>C | GRCh37 |
| NC_000015.8:g.41690479A>C | NCBI36 |
| NG_011636.1:g.12812T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3307-5T>G MANE Select | ENSP00000401513.2:n.3307-5T>G | |
| ENST00000428650.5:c.*339-5T>G | ENSP00000415991.1:n.*339-5T>G | |
| ENST00000440125.5:c.*1215+510T>G | ENSP00000394866.1:n.*1215+510T>G | |
| ENST00000448437.6:n.692T>G | ||
| ENST00000450892.6:c.3307-5T>G | ENSP00000401513.2:n.3307-5T>G | |
| ENST00000455136.5:c.529+510T>G | ||
| ENST00000471703.5:n.604T>G | ||
| ENST00000485556.5:n.835T>G | ||
| ENST00000541030.5:c.1104+510T>G | ENSP00000440413.1:n.1104+510T>G | |
| NM_153700.2:c.3307-5T>G MANE Select | NP_714544.1:n.3307-5T>G | |
| XM_011521277.1:c.3796-5T>G | XP_011519579.1:n.3796-5T>G | |
| XM_011521278.1:c.3409-5T>G | XP_011519580.1:n.3409-5T>G | |
| XM_011521279.1:c.3409-5T>G | XP_011519581.1:n.3409-5T>G |