Linked Data
ClinVar Variation Id:
234857
dbSNP Id:
rs376922615
ExAC:
16:68863677 G / A
gnomAD v2:
16-68863677-G-A
gnomAD v3:
16-68829774-G-A
gnomAD v4:
16-68829774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829774G>A , CM000678.2:g.68829774G>A | GRCh38 |
| NC_000016.9:g.68863677G>A , CM000678.1:g.68863677G>A | GRCh37 |
| NC_000016.8:g.67421178G>A | NCBI36 |
| NG_008021.1:g.97483G>A , LRG_301:g.97483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2416G>A MANE Select | ENSP00000261769.4:p.Glu806Lys | |
| ENST00000261769.9:c.2416G>A | ENSP00000261769.4:p.Glu806Lys | |
| ENST00000422392.6:c.2233G>A | ENSP00000414946.2:p.Glu745Lys | |
| ENST00000562118.1:n.634G>A | ||
| ENST00000562836.5:n.2487G>A | ||
| ENST00000566510.5:c.*1082G>A | ENSP00000458139.1:n.*1082G>A | |
| ENST00000566612.5:c.*656G>A | ENSP00000454782.1:n.*656G>A | |
| ENST00000611625.4:c.2479G>A | ENSP00000481063.1:p.Glu827Lys | |
| ENST00000612417.4:c.1853+3220G>A | ENSP00000478360.1:n.1853+3220G>A | |
| ENST00000621016.4:c.1866-4429G>A | ENSP00000480664.1:n.1866-4429G>A | |
| NM_004360.3:c.2416G>A , LRG_301t1:c.2416G>A | NP_004351.1:p.Glu806Lys | |
| XM_011523488.1:c.1681G>A | XP_011521790.1:p.Glu561Lys | |
| XM_011523489.1:c.1681G>A | XP_011521791.1:p.Glu561Lys | |
| NM_001317184.1:c.2233G>A | NP_001304113.1:p.Glu745Lys | |
| NM_001317185.1:c.868G>A | NP_001304114.1:p.Glu290Lys | |
| NM_001317186.1:c.451G>A | NP_001304115.1:p.Glu151Lys | |
| NM_004360.4:c.2416G>A | NP_004351.1:p.Glu806Lys | |
| NM_004360.5:c.2416G>A MANE Select | NP_004351.1:p.Glu806Lys | |
| NM_001317184.2:c.2233G>A | NP_001304113.1:p.Glu745Lys | |
| NM_001317185.2:c.868G>A | NP_001304114.1:p.Glu290Lys | |
| NM_001317186.2:c.451G>A | NP_001304115.1:p.Glu151Lys |