Linked Data
ClinVar Variation Id:
472895
dbSNP Id:
rs143195637
ExAC:
16:81953128 C / T
gnomAD v2:
16-81953128-C-T
gnomAD v3:
16-81919523-C-T
gnomAD v4:
16-81919523-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81919523C>T , CM000678.2:g.81919523C>T | GRCh38 |
| NC_000016.9:g.81953128C>T , CM000678.1:g.81953128C>T | GRCh37 |
| NC_000016.8:g.80510629C>T | NCBI36 |
| NG_032019.2:g.185427C>T , LRG_376:g.185427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570198.2:n.1212C>T | ||
| ENST00000697562.1:c.*954C>T | ENSP00000513338.1:n.*954C>T | |
| ENST00000697563.1:c.*1940C>T | ENSP00000513339.1:n.*1940C>T | |
| ENST00000697564.1:c.1977C>T | ENSP00000513340.1:p.Asp659= | |
| ENST00000697581.1:c.*2088C>T | ENSP00000513346.1:n.*2088C>T | |
| ENST00000697582.1:c.2094C>T | ENSP00000513347.1:p.Asp698= | |
| ENST00000697583.1:c.1893C>T | ENSP00000513349.1:p.Asp631= | |
| ENST00000697584.1:c.1893C>T | ENSP00000513350.1:p.Asp631= | |
| ENST00000697585.1:c.1893C>T | ENSP00000513351.1:p.Asp631= | |
| ENST00000697586.1:c.1893C>T | ENSP00000513352.1:p.Asp631= | |
| ENST00000697587.1:c.1893C>T | ENSP00000513353.1:p.Asp631= | |
| ENST00000564138.6:c.2094C>T MANE Select | ENSP00000482457.1:p.Asp698= | |
| ENST00000359376.7:c.2094C>T | ENSP00000352336.4:p.Asp698= | |
| ENST00000564138.5:c.2094C>T | ENSP00000482457.1:p.Asp698= | |
| ENST00000567980.5:n.2338C>T | ||
| NM_002661.4:c.2094C>T | NP_002652.2:p.Asp698= | |
| XM_011523108.1:c.2208C>T | XP_011521410.1:p.Asp736= | |
| NM_002661.5:c.2094C>T MANE Select | NP_002652.2:p.Asp698= |