Linked Data
dbSNP Id:
rs766784893
ExAC:
12:56481825 C / T
gnomAD v2:
12-56481825-C-T
gnomAD v4:
12-56088041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56088041C>T , CM000674.2:g.56088041C>T | GRCh38 |
| NC_000012.11:g.56481825C>T , CM000674.1:g.56481825C>T | GRCh37 |
| NC_000012.10:g.54768092C>T | NCBI36 |
| NG_011529.1:g.12934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682431.1:n.912C>T | ||
| ENST00000683018.1:c.576C>T | ENSP00000506822.1:p.Asp192= | |
| ENST00000683059.1:c.576C>T | ENSP00000507402.1:p.Asp192= | |
| ENST00000683164.1:c.576C>T | ENSP00000508051.1:p.Asp192= | |
| ENST00000683653.1:n.707C>T | ||
| ENST00000684500.1:n.882C>T | ||
| ENST00000267101.8:c.753C>T MANE Select | ENSP00000267101.4:p.Asp251= | |
| ENST00000267101.7:c.753C>T | ENSP00000267101.3:p.Asp251= | |
| ENST00000415288.6:c.576C>T | ENSP00000408340.2:p.Asp192= | |
| ENST00000546748.1:n.218C>T | ||
| ENST00000549472.1:n.496C>T | ||
| ENST00000550869.5:c.25-6440C>T | ENSP00000448671.1:n.25-6440C>T | |
| ENST00000551085.5:c.753C>T | ENSP00000448483.1:p.Asp251= | |
| ENST00000551242.5:c.753C>T | ENSP00000447510.1:p.Asp251= | |
| NM_001982.3:c.753C>T | NP_001973.2:p.Asp251= | |
| NM_001982.4:c.753C>T MANE Select | NP_001973.2:p.Asp251= |