Linked Data
ClinVar Variation Id:
1657749
ClinVar RCV Id:
RCV002175743
dbSNP Id:
rs149516834
ExAC:
16:1412275 G / A
gnomAD v2:
16-1412275-G-A
gnomAD v3:
16-1362274-G-A
gnomAD v4:
16-1362274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362274G>A , CM000678.2:g.1362274G>A | GRCh38 |
| NC_000016.9:g.1412275G>A , CM000678.1:g.1412275G>A | GRCh37 |
| NC_000016.8:g.1352276G>A | NCBI36 |
| NG_016985.1:g.15376G>A | |
| NG_033129.1:g.57431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.579G>A | ||
| ENST00000529110.2:c.564G>A | ENSP00000435349.2:p.Ala188= | |
| ENST00000529957.6:n.538G>A | ||
| ENST00000683366.1:c.*212G>A | ENSP00000507283.1:n.*212G>A | |
| ENST00000683887.1:c.528G>A | ENSP00000506886.1:p.Ala176= | |
| ENST00000684100.1:n.474G>A | ||
| ENST00000684126.1:n.538G>A | ||
| ENST00000684688.1:n.1105G>A | ||
| ENST00000204679.9:c.480G>A MANE Select | ENSP00000204679.4:p.Ala160= | |
| ENST00000204679.8:c.480G>A | ENSP00000204679.4:p.Ala160= | |
| ENST00000527076.1:n.1496G>A | ||
| ENST00000527168.5:n.516G>A | ||
| ENST00000529110.1:c.547G>A | ||
| ENST00000529957.5:n.579G>A | ||
| NM_032520.4:c.480G>A | NP_115909.1:p.Ala160= | |
| XM_017023782.1:c.528G>A | XP_016879271.1:p.Ala176= | |
| XM_017023783.1:c.120G>A | XP_016879272.1:p.Ala40= | |
| NM_032520.5:c.480G>A MANE Select | NP_115909.1:p.Ala160= |