Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840519T>G , CM000677.2:g.84840519T>G | GRCh38 |
| NC_000015.9:g.85383750T>G , CM000677.1:g.85383750T>G | GRCh37 |
| NC_000015.8:g.83184754T>G | NCBI36 |
| NG_054748.1:g.28889T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1240T>G MANE Select | ENSP00000258888.6:p.Ser414Ala | |
| ENST00000258888.5:c.1846T>G | ENSP00000258888.5:p.Ser616Ala | |
| NM_020778.4:c.1846T>G | NP_065829.3:p.Ser616Ala | |
| NM_020778.5:c.1240T>G MANE Select | NP_065829.4:p.Ser414Ala |