Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882181T>A , CM000664.2:g.218882181T>A | GRCh38 |
| NC_000002.11:g.219746903T>A , CM000664.1:g.219746903T>A | GRCh37 |
| NC_000002.10:g.219455147T>A | NCBI36 |
| NG_012179.1:g.6649T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.134T>A MANE Select | ENSP00000258411.3:p.Leu45Gln | |
| ENST00000258411.7:c.134T>A | ENSP00000258411.3:p.Leu45Gln | |
| ENST00000458582.1:c.21T>A | ||
| NM_025216.2:c.134T>A | NP_079492.2:p.Leu45Gln | |
| XM_011511928.1:c.83T>A | XP_011510230.1:p.Leu28Gln | |
| XM_011511929.1:c.38T>A | XP_011510231.1:p.Leu13Gln | |
| XM_011511930.1:c.134T>A | XP_011510232.1:p.Leu45Gln | |
| XM_011511929.2:c.38T>A | XP_011510231.1:p.Leu13Gln | |
| NM_025216.3:c.134T>A MANE Select | NP_079492.2:p.Leu45Gln |