Linked Data
ClinVar Variation Id:
1706708
ClinVar RCV Id:
RCV002285624
dbSNP Id:
rs76695056
ExAC:
16:1412362 G / A
gnomAD v2:
16-1412362-G-A
gnomAD v3:
16-1362361-G-A
gnomAD v4:
16-1362361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362361G>A , CM000678.2:g.1362361G>A | GRCh38 |
| NC_000016.9:g.1412362G>A , CM000678.1:g.1412362G>A | GRCh37 |
| NC_000016.8:g.1352363G>A | NCBI36 |
| NG_016985.1:g.15463G>A | |
| NG_033129.1:g.57344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.625+41G>A | ||
| ENST00000529110.2:c.610+41G>A | ENSP00000435349.2:n.610+41G>A | |
| ENST00000529957.6:n.584+41G>A | ||
| ENST00000683366.1:c.*258+41G>A | ENSP00000507283.1:n.*258+41G>A | |
| ENST00000683887.1:c.574+41G>A | ENSP00000506886.1:n.574+41G>A | |
| ENST00000684100.1:n.520+41G>A | ||
| ENST00000684126.1:n.584+41G>A | ||
| ENST00000684688.1:n.1151+41G>A | ||
| ENST00000204679.9:c.526+41G>A MANE Select | ENSP00000204679.4:n.526+41G>A | |
| ENST00000204679.8:c.526+41G>A | ENSP00000204679.4:n.526+41G>A | |
| ENST00000527076.1:n.1583G>A | ||
| ENST00000527168.5:n.603G>A | ||
| ENST00000529957.5:n.625+41G>A | ||
| NM_032520.4:c.526+41G>A | NP_115909.1:n.526+41G>A | |
| XM_017023782.1:c.574+41G>A | XP_016879271.1:n.574+41G>A | |
| XM_017023783.1:c.166+41G>A | XP_016879272.1:n.166+41G>A | |
| NM_032520.5:c.526+41G>A MANE Select | NP_115909.1:n.526+41G>A |