Linked Data
dbSNP Id:
rs747107960
ExAC:
16:56904138 C / A
gnomAD v2:
16-56904138-C-A
gnomAD v3:
16-56870226-C-A
gnomAD v4:
16-56870226-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870226C>A , CM000678.2:g.56870226C>A | GRCh38 |
| NC_000016.9:g.56904138C>A , CM000678.1:g.56904138C>A | GRCh37 |
| NC_000016.8:g.55461639C>A | NCBI36 |
| NG_009386.1:g.10020C>A | |
| NG_009386.2:g.10020C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.732C>A MANE Select | ENSP00000456149.2:p.Asp244Glu | |
| ENST00000262502.5:c.729C>A | ENSP00000262502.5:p.Asp243Glu | |
| ENST00000438926.6:c.732C>A | ENSP00000402152.2:p.Asp244Glu | |
| ENST00000563236.5:c.732C>A | ENSP00000456149.1:p.Asp244Glu | |
| ENST00000566786.5:c.729C>A | ENSP00000457552.1:p.Asp243Glu | |
| NM_000339.2:c.732C>A | NP_000330.2:p.Asp244Glu | |
| NM_001126107.1:c.729C>A | NP_001119579.1:p.Asp243Glu | |
| NM_001126108.1:c.732C>A | NP_001119580.1:p.Asp244Glu | |
| XM_005256119.1:c.729C>A | XP_005256176.1:p.Asp243Glu | |
| XM_005256119.2:c.729C>A | XP_005256176.1:p.Asp243Glu | |
| NM_000339.3:c.732C>A | NP_000330.3:p.Asp244Glu | |
| NM_001126107.2:c.729C>A | NP_001119579.2:p.Asp243Glu | |
| NM_001126108.2:c.732C>A MANE Select | NP_001119580.2:p.Asp244Glu |