Linked Data
ClinVar Variation Id:
1051934
ClinVar RCV Id:
RCV001360036
dbSNP Id:
rs766647003
ExAC:
16:1412285 G / A
gnomAD v2:
16-1412285-G-A
gnomAD v3:
16-1362284-G-A
gnomAD v4:
16-1362284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362284G>A , CM000678.2:g.1362284G>A | GRCh38 |
| NC_000016.9:g.1412285G>A , CM000678.1:g.1412285G>A | GRCh37 |
| NC_000016.8:g.1352286G>A | NCBI36 |
| NG_016985.1:g.15386G>A | |
| NG_033129.1:g.57421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.589G>A | ||
| ENST00000529110.2:c.574G>A | ENSP00000435349.2:p.Glu192Lys | |
| ENST00000529957.6:n.548G>A | ||
| ENST00000683366.1:c.*222G>A | ENSP00000507283.1:n.*222G>A | |
| ENST00000683887.1:c.538G>A | ENSP00000506886.1:p.Glu180Lys | |
| ENST00000684100.1:n.484G>A | ||
| ENST00000684126.1:n.548G>A | ||
| ENST00000684688.1:n.1115G>A | ||
| ENST00000204679.9:c.490G>A MANE Select | ENSP00000204679.4:p.Glu164Lys | |
| ENST00000204679.8:c.490G>A | ENSP00000204679.4:p.Glu164Lys | |
| ENST00000527076.1:n.1506G>A | ||
| ENST00000527168.5:n.526G>A | ||
| ENST00000529957.5:n.589G>A | ||
| NM_032520.4:c.490G>A | NP_115909.1:p.Glu164Lys | |
| XM_017023782.1:c.538G>A | XP_016879271.1:p.Glu180Lys | |
| XM_017023783.1:c.130G>A | XP_016879272.1:p.Glu44Lys | |
| NM_032520.5:c.490G>A MANE Select | NP_115909.1:p.Glu164Lys |