Linked Data
ClinVar Variation Id:
1123235
ClinVar RCV Id:
RCV001454183
dbSNP Id:
rs377647926
ExAC:
16:1412897 G / A
gnomAD v2:
16-1412897-G-A
gnomAD v3:
16-1362896-G-A
gnomAD v4:
16-1362896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362896G>A , CM000678.2:g.1362896G>A | GRCh38 |
| NC_000016.9:g.1412897G>A , CM000678.1:g.1412897G>A | GRCh37 |
| NC_000016.8:g.1352898G>A | NCBI36 |
| NG_016985.1:g.15998G>A | |
| NG_033129.1:g.56809C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.912G>A | ||
| ENST00000529110.2:c.897G>A | ENSP00000435349.2:p.Thr299= | |
| ENST00000529957.6:n.871G>A | ||
| ENST00000683366.1:c.*545G>A | ENSP00000507283.1:n.*545G>A | |
| ENST00000683887.1:c.861G>A | ENSP00000506886.1:p.Thr287= | |
| ENST00000684100.1:n.807G>A | ||
| ENST00000684126.1:n.947G>A | ||
| ENST00000684688.1:n.1438G>A | ||
| ENST00000204679.9:c.813G>A MANE Select | ENSP00000204679.4:p.Thr271= | |
| ENST00000204679.8:c.813G>A | ENSP00000204679.4:p.Thr271= | |
| ENST00000527076.1:n.2036G>A | ||
| ENST00000527168.5:n.980G>A | ||
| ENST00000529957.5:n.912G>A | ||
| NM_032520.4:c.813G>A | NP_115909.1:p.Thr271= | |
| XM_017023782.1:c.861G>A | XP_016879271.1:p.Thr287= | |
| XM_017023783.1:c.453G>A | XP_016879272.1:p.Thr151= | |
| NM_032520.5:c.813G>A MANE Select | NP_115909.1:p.Thr271= |