Linked Data
ClinVar Variation Id:
1597315
ClinVar RCV Id:
RCV002105765
dbSNP Id:
rs775426073
ExAC:
16:1412328 G / A
gnomAD v2:
16-1412328-G-A
gnomAD v3:
16-1362327-G-A
gnomAD v4:
16-1362327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362327G>A , CM000678.2:g.1362327G>A | GRCh38 |
| NC_000016.9:g.1412328G>A , CM000678.1:g.1412328G>A | GRCh37 |
| NC_000016.8:g.1352329G>A | NCBI36 |
| NG_016985.1:g.15429G>A | |
| NG_033129.1:g.57378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.625+7G>A | ||
| ENST00000529110.2:c.610+7G>A | ENSP00000435349.2:n.610+7G>A | |
| ENST00000529957.6:n.584+7G>A | ||
| ENST00000683366.1:c.*258+7G>A | ENSP00000507283.1:n.*258+7G>A | |
| ENST00000683887.1:c.574+7G>A | ENSP00000506886.1:n.574+7G>A | |
| ENST00000684100.1:n.520+7G>A | ||
| ENST00000684126.1:n.584+7G>A | ||
| ENST00000684688.1:n.1151+7G>A | ||
| ENST00000204679.9:c.526+7G>A MANE Select | ENSP00000204679.4:n.526+7G>A | |
| ENST00000204679.8:c.526+7G>A | ENSP00000204679.4:n.526+7G>A | |
| ENST00000527076.1:n.1549G>A | ||
| ENST00000527168.5:n.569G>A | ||
| ENST00000529957.5:n.625+7G>A | ||
| NM_032520.4:c.526+7G>A | NP_115909.1:n.526+7G>A | |
| XM_017023782.1:c.574+7G>A | XP_016879271.1:n.574+7G>A | |
| XM_017023783.1:c.166+7G>A | XP_016879272.1:n.166+7G>A | |
| NM_032520.5:c.526+7G>A MANE Select | NP_115909.1:n.526+7G>A |