Linked Data
ClinVar Variation Id:
142826
dbSNP Id:
rs587782750
ExAC:
16:68856113 C / T
gnomAD v2:
16-68856113-C-T
gnomAD v4:
16-68822210-C-T
COSMIC:
COSM3818354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822210C>T , CM000678.2:g.68822210C>T | GRCh38 |
| NC_000016.9:g.68856113C>T , CM000678.1:g.68856113C>T | GRCh37 |
| NC_000016.8:g.67413614C>T | NCBI36 |
| NG_008021.1:g.89919C>T , LRG_301:g.89919C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1921C>T MANE Select | ENSP00000261769.4:p.Gln641Ter | |
| ENST00000261769.9:c.1921C>T | ENSP00000261769.4:p.Gln641Ter | |
| ENST00000422392.6:c.1738C>T | ENSP00000414946.2:p.Gln580Ter | |
| ENST00000562836.5:n.1992C>T | ||
| ENST00000566510.5:c.*587C>T | ENSP00000458139.1:n.*587C>T | |
| ENST00000566612.5:c.*161C>T | ENSP00000454782.1:n.*161C>T | |
| ENST00000611625.4:c.1984C>T | ENSP00000481063.1:p.Gln662Ter | |
| ENST00000612417.4:c.1830+91C>T | ENSP00000478360.1:n.1830+91C>T | |
| ENST00000621016.4:c.1865+56C>T | ENSP00000480664.1:n.1865+56C>T | |
| NM_004360.3:c.1921C>T , LRG_301t1:c.1921C>T | NP_004351.1:p.Gln641Ter | |
| XM_011523488.1:c.1186C>T | XP_011521790.1:p.Gln396Ter | |
| XM_011523489.1:c.1186C>T | XP_011521791.1:p.Gln396Ter | |
| NM_001317184.1:c.1738C>T | NP_001304113.1:p.Gln580Ter | |
| NM_001317185.1:c.373C>T | NP_001304114.1:p.Gln125Ter | |
| NM_001317186.1:c.-45C>T | NP_001304115.1:n.-45C>T | |
| NM_004360.4:c.1921C>T | NP_004351.1:p.Gln641Ter | |
| NM_004360.5:c.1921C>T MANE Select | NP_004351.1:p.Gln641Ter | |
| NM_001317184.2:c.1738C>T | NP_001304113.1:p.Gln580Ter | |
| NM_001317185.2:c.373C>T | NP_001304114.1:p.Gln125Ter | |
| NM_001317186.2:c.-45C>T | NP_001304115.1:n.-45C>T |