Linked Data
ClinVar Variation Id:
481122
dbSNP Id:
rs768350776
ExAC:
16:68867280 G / A
gnomAD v2:
16-68867280-G-A
gnomAD v4:
16-68833377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833377G>A , CM000678.2:g.68833377G>A | GRCh38 |
| NC_000016.9:g.68867280G>A , CM000678.1:g.68867280G>A | GRCh37 |
| NC_000016.8:g.67424781G>A | NCBI36 |
| NG_008021.1:g.101086G>A , LRG_301:g.101086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2527G>A MANE Select | ENSP00000261769.4:p.Ala843Thr | |
| ENST00000261769.9:c.2527G>A | ENSP00000261769.4:p.Ala843Thr | |
| ENST00000422392.6:c.2344G>A | ENSP00000414946.2:p.Ala782Thr | |
| ENST00000562118.1:n.745G>A | ||
| ENST00000562836.5:n.2598G>A | ||
| ENST00000566510.5:c.*1193G>A | ENSP00000458139.1:n.*1193G>A | |
| ENST00000566612.5:c.*767G>A | ENSP00000454782.1:n.*767G>A | |
| ENST00000611625.4:c.2590G>A | ENSP00000481063.1:p.Ala864Thr | |
| ENST00000612417.4:c.1854-814G>A | ENSP00000478360.1:n.1854-814G>A | |
| ENST00000621016.4:c.1866-826G>A | ENSP00000480664.1:n.1866-826G>A | |
| NM_004360.3:c.2527G>A , LRG_301t1:c.2527G>A | NP_004351.1:p.Ala843Thr | |
| XM_011523488.1:c.1792G>A | XP_011521790.1:p.Ala598Thr | |
| XM_011523489.1:c.1792G>A | XP_011521791.1:p.Ala598Thr | |
| NM_001317184.1:c.2344G>A | NP_001304113.1:p.Ala782Thr | |
| NM_001317185.1:c.979G>A | NP_001304114.1:p.Ala327Thr | |
| NM_001317186.1:c.562G>A | NP_001304115.1:p.Ala188Thr | |
| NM_004360.4:c.2527G>A | NP_004351.1:p.Ala843Thr | |
| NM_004360.5:c.2527G>A MANE Select | NP_004351.1:p.Ala843Thr | |
| NM_001317184.2:c.2344G>A | NP_001304113.1:p.Ala782Thr | |
| NM_001317185.2:c.979G>A | NP_001304114.1:p.Ala327Thr | |
| NM_001317186.2:c.562G>A | NP_001304115.1:p.Ala188Thr |