Linked Data
dbSNP Id:
rs778992329
ExAC:
16:14029296 G / A
gnomAD v2:
16-14029296-G-A
gnomAD v3:
16-13935439-G-A
gnomAD v4:
16-13935439-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935439G>A , CM000678.2:g.13935439G>A | GRCh38 |
| NC_000016.9:g.14029296G>A , CM000678.1:g.14029296G>A | GRCh37 |
| NC_000016.8:g.13936797G>A | NCBI36 |
| NG_011442.1:g.20283G>A , LRG_463:g.20283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1585G>A | ||
| ENST00000682617.1:c.1645G>A | ENSP00000507912.1:p.Glu549Lys | |
| ENST00000682826.1:c.*821G>A | ENSP00000507274.1:n.*821G>A | |
| ENST00000682909.1:n.3547G>A | ||
| ENST00000683277.1:n.3152G>A | ||
| ENST00000683407.1:n.1515G>A | ||
| ENST00000683962.1:c.*1201G>A | ENSP00000506854.1:n.*1201G>A | |
| ENST00000311895.8:c.1507G>A MANE Select | ENSP00000310520.7:p.Glu503Lys | |
| ENST00000311895.7:c.1507G>A | ENSP00000310520.7:p.Glu503Lys | |
| ENST00000389138.7:n.784G>A | ||
| NM_005236.2:c.1507G>A , LRG_463t1:c.1507G>A | NP_005227.1:p.Glu503Lys | |
| XM_011522424.1:c.1645G>A | XP_011520726.1:p.Glu549Lys | |
| XM_011522425.1:c.964G>A | XP_011520727.1:p.Glu322Lys | |
| XM_011522426.1:c.718G>A | XP_011520728.1:p.Glu240Lys | |
| XM_011522427.1:c.157G>A | XP_011520729.1:p.Glu53Lys | |
| XR_932805.1:n.1666G>A | ||
| XM_011522424.3:c.1645G>A | XP_011520726.1:p.Glu549Lys | |
| XM_017023043.2:c.718G>A | XP_016878532.1:p.Glu240Lys | |
| NM_005236.3:c.1507G>A MANE Select | NP_005227.1:p.Glu503Lys |