Linked Data
gnomAD v4:
16-177028-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177028C>G , CM000678.2:g.177028C>G | GRCh38 |
| NC_000016.9:g.227027C>G , CM000678.1:g.227027C>G | GRCh37 |
| NC_000016.8:g.167027C>G | NCBI36 |
| NG_000006.1:g.37891C>G | |
| NG_059186.1:g.5378C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.195C>G MANE Select | ENSP00000322421.5:p.Asp65Glu | |
| ENST00000397797.1:c.99C>G | ENSP00000380899.1:p.Asp33Glu | |
| ENST00000472694.1:n.331C>G | ||
| ENST00000487791.1:n.164C>G | ||
| NM_000558.4:c.195C>G | NP_000549.1:p.Asp65Glu | |
| NM_000558.5:c.195C>G MANE Select | NP_000549.1:p.Asp65Glu |