HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749934T>G , CM000677.2:g.74749934T>G | GRCh38 |
NC_000015.9:g.75042275T>G , CM000677.1:g.75042275T>G | GRCh37 |
NC_000015.8:g.72829328T>G | NCBI36 |
NG_008431.1:g.32393T>G | |
NG_008431.2:g.32393T>G | |
NG_061543.1:g.6090T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.196T>G MANE Select | ENSP00000342007.4:p.Ser66Ala | |
ENST00000343932.4:c.196T>G | ENSP00000342007.4:p.Ser66Ala | |
NM_000761.4:c.196T>G | NP_000752.2:p.Ser66Ala | |
NM_000761.5:c.196T>G MANE Select | NP_000752.2:p.Ser66Ala |