Linked Data
ClinVar Variation Id:
418114
dbSNP Id:
rs767159815
ExAC:
16:68867212 C / T
gnomAD v2:
16-68867212-C-T
gnomAD v4:
16-68833309-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833309C>T , CM000678.2:g.68833309C>T | GRCh38 |
| NC_000016.9:g.68867212C>T , CM000678.1:g.68867212C>T | GRCh37 |
| NC_000016.8:g.67424713C>T | NCBI36 |
| NG_008021.1:g.101018C>T , LRG_301:g.101018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2459C>T MANE Select | ENSP00000261769.4:p.Thr820Ile | |
| ENST00000261769.9:c.2459C>T | ENSP00000261769.4:p.Thr820Ile | |
| ENST00000422392.6:c.2276C>T | ENSP00000414946.2:p.Thr759Ile | |
| ENST00000562118.1:n.677C>T | ||
| ENST00000562836.5:n.2530C>T | ||
| ENST00000566510.5:c.*1125C>T | ENSP00000458139.1:n.*1125C>T | |
| ENST00000566612.5:c.*699C>T | ENSP00000454782.1:n.*699C>T | |
| ENST00000611625.4:c.2522C>T | ENSP00000481063.1:p.Thr841Ile | |
| ENST00000612417.4:c.1854-882C>T | ENSP00000478360.1:n.1854-882C>T | |
| ENST00000621016.4:c.1866-894C>T | ENSP00000480664.1:n.1866-894C>T | |
| NM_004360.3:c.2459C>T , LRG_301t1:c.2459C>T | NP_004351.1:p.Thr820Ile | |
| XM_011523488.1:c.1724C>T | XP_011521790.1:p.Thr575Ile | |
| XM_011523489.1:c.1724C>T | XP_011521791.1:p.Thr575Ile | |
| NM_001317184.1:c.2276C>T | NP_001304113.1:p.Thr759Ile | |
| NM_001317185.1:c.911C>T | NP_001304114.1:p.Thr304Ile | |
| NM_001317186.1:c.494C>T | NP_001304115.1:p.Thr165Ile | |
| NM_004360.4:c.2459C>T | NP_004351.1:p.Thr820Ile | |
| NM_004360.5:c.2459C>T MANE Select | NP_004351.1:p.Thr820Ile | |
| NM_001317184.2:c.2276C>T | NP_001304113.1:p.Thr759Ile | |
| NM_001317185.2:c.911C>T | NP_001304114.1:p.Thr304Ile | |
| NM_001317186.2:c.494C>T | NP_001304115.1:p.Thr165Ile |