Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445616T>A , CM000663.2:g.15445616T>A | GRCh38 |
| NC_000001.10:g.15772111T>A , CM000663.1:g.15772111T>A | GRCh37 |
| NC_000001.9:g.15644698T>A | NCBI36 |
| NG_009253.1:g.12174T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.659T>A MANE Select | ENSP00000365116.4:p.Leu220Gln | |
| ENST00000375943.6:c.*113T>A | ENSP00000365110.2:n.*113T>A | |
| ENST00000375949.4:c.659T>A | ENSP00000365116.4:p.Leu220Gln | |
| ENST00000483406.1:n.423T>A | ||
| NM_007272.2:c.659T>A | NP_009203.2:p.Leu220Gln | |
| XM_011540550.1:c.513T>A | XP_011538852.1:p.Thr171= | |
| NM_007272.3:c.659T>A MANE Select | NP_009203.2:p.Leu220Gln |