Linked Data
ClinVar Variation Id:
1155284
dbSNP Id:
rs771764012
ExAC:
16:81888101 C / T
gnomAD v2:
16-81888101-C-T
gnomAD v3:
16-81854496-C-T
gnomAD v4:
16-81854496-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81854496C>T , CM000678.2:g.81854496C>T | GRCh38 |
| NC_000016.9:g.81888101C>T , CM000678.1:g.81888101C>T | GRCh37 |
| NC_000016.8:g.80445602C>T | NCBI36 |
| NG_032019.2:g.120400C>T , LRG_376:g.120400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.246C>T | ENSP00000455533.2:p.Phe82= | |
| ENST00000697561.1:c.246C>T | ENSP00000513337.1:p.Phe82= | |
| ENST00000697562.1:c.246C>T | ENSP00000513338.1:p.Phe82= | |
| ENST00000697563.1:c.246C>T | ENSP00000513339.1:p.Phe82= | |
| ENST00000697564.1:c.246C>T | ENSP00000513340.1:p.Phe82= | |
| ENST00000697565.1:n.186C>T | ||
| ENST00000697581.1:c.*240C>T | ENSP00000513346.1:n.*240C>T | |
| ENST00000697582.1:c.246C>T | ENSP00000513347.1:p.Phe82= | |
| ENST00000697583.1:c.45C>T | ENSP00000513349.1:p.Phe15= | |
| ENST00000697584.1:c.45C>T | ENSP00000513350.1:p.Phe15= | |
| ENST00000697585.1:c.45C>T | ENSP00000513351.1:p.Phe15= | |
| ENST00000697586.1:c.45C>T | ENSP00000513352.1:p.Phe15= | |
| ENST00000697587.1:c.45C>T | ENSP00000513353.1:p.Phe15= | |
| ENST00000564138.6:c.246C>T MANE Select | ENSP00000482457.1:p.Phe82= | |
| ENST00000359376.7:c.246C>T | ENSP00000352336.4:p.Phe82= | |
| ENST00000564138.5:c.246C>T | ENSP00000482457.1:p.Phe82= | |
| ENST00000565054.5:c.246C>T | ENSP00000455956.1:p.Phe82= | |
| ENST00000565400.5:n.570C>T | ||
| ENST00000567980.5:n.490C>T | ||
| ENST00000569523.1:n.278C>T | ||
| ENST00000569929.5:n.376C>T | ||
| NM_002661.4:c.246C>T | NP_002652.2:p.Phe82= | |
| XM_011523108.1:c.360C>T | XP_011521410.1:p.Phe120= | |
| NM_002661.5:c.246C>T MANE Select | NP_002652.2:p.Phe82= |