Linked Data
ClinVar Variation Id:
384559
dbSNP Id:
rs545873278
ExAC:
16:5127890 G / A
gnomAD v2:
16-5127890-G-A
gnomAD v3:
16-5077889-G-A
gnomAD v4:
16-5077889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5077889G>A , CM000678.2:g.5077889G>A | GRCh38 |
| NC_000016.9:g.5127890G>A , CM000678.1:g.5127890G>A | GRCh37 |
| NC_000016.8:g.5067891G>A | NCBI36 |
| NG_009202.1:g.11081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.2768-18G>A | ||
| ENST00000682020.1:c.36-18G>A | ENSP00000508075.1:n.36-18G>A | |
| ENST00000682206.1:c.630-18G>A | ENSP00000508285.1:n.630-18G>A | |
| ENST00000682314.1:n.674-18G>A | ||
| ENST00000682327.1:c.141-18G>A | ENSP00000507058.1:n.141-18G>A | |
| ENST00000682349.1:n.2768-18G>A | ||
| ENST00000682703.1:n.2768-18G>A | ||
| ENST00000682797.1:c.630-18G>A | ENSP00000507582.1:n.630-18G>A | |
| ENST00000682985.1:c.141-18G>A | ENSP00000507598.1:n.141-18G>A | |
| ENST00000683433.1:c.35+355G>A | ENSP00000507463.1:n.35+355G>A | |
| ENST00000683685.1:n.674-18G>A | ||
| ENST00000683710.1:c.*593-18G>A | ENSP00000506785.1:n.*593-18G>A | |
| ENST00000683739.1:c.297-18G>A | ENSP00000507002.1:n.297-18G>A | |
| ENST00000683772.1:n.674-18G>A | ||
| ENST00000684008.1:c.564-18G>A | ENSP00000507962.1:n.564-18G>A | |
| ENST00000684190.1:c.630-18G>A | ENSP00000507554.1:n.630-18G>A | |
| ENST00000684335.1:c.630-18G>A | ENSP00000508112.1:n.630-18G>A | |
| ENST00000262374.10:c.630-18G>A MANE Select | ENSP00000262374.5:n.630-18G>A | |
| ENST00000650085.1:n.1450-18G>A | ||
| ENST00000262374.9:c.630-18G>A | ENSP00000262374.4:n.630-18G>A | |
| ENST00000544428.1:c.297-18G>A | ENSP00000440019.1:n.297-18G>A | |
| ENST00000588623.5:c.297-18G>A | ENSP00000468118.1:n.297-18G>A | |
| ENST00000591783.5:c.297-18G>A | ENSP00000464700.1:n.297-18G>A | |
| ENST00000591822.5:c.*531-18G>A | ENSP00000467865.1:n.*531-18G>A | |
| NM_019109.4:c.630-18G>A | NP_061982.3:n.630-18G>A | |
| XM_011522565.1:c.297-18G>A | XP_011520867.1:n.297-18G>A | |
| XR_932882.1:n.671-18G>A | ||
| NM_001330504.1:c.297-18G>A | NP_001317433.1:n.297-18G>A | |
| XM_017023457.2:c.630-18G>A | XP_016878946.1:n.630-18G>A | |
| XM_017023458.1:c.297-18G>A | XP_016878947.1:n.297-18G>A | |
| XR_932882.3:n.655-18G>A | ||
| NM_019109.5:c.630-18G>A MANE Select | NP_061982.3:n.630-18G>A | |
| NM_001330504.2:c.297-18G>A | NP_001317433.1:n.297-18G>A |