Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562847T>A , CM000682.2:g.57562847T>A | GRCh38 |
| NC_000020.10:g.56137903T>A , CM000682.1:g.56137903T>A | GRCh37 |
| NC_000020.9:g.55571309T>A | NCBI36 |
| NG_008205.1:g.6767T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.558T>A MANE Select | ENSP00000319814.4:p.Asp186Glu | |
| ENST00000319441.5:c.558T>A | ENSP00000319814.4:p.Asp186Glu | |
| ENST00000467047.1:n.1768T>A | ||
| ENST00000470051.1:n.14T>A | ||
| ENST00000498194.1:n.500T>A | ||
| NM_002591.3:c.558T>A | NP_002582.3:p.Asp186Glu | |
| XM_011528839.1:c.162T>A | XP_011527141.1:p.Asp54Glu | |
| XM_024451888.1:c.162T>A | XP_024307656.1:p.Asp54Glu | |
| NM_002591.4:c.558T>A MANE Select | NP_002582.3:p.Asp186Glu |