HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749785T>A , CM000677.2:g.74749785T>A | GRCh38 |
NC_000015.9:g.75042126T>A , CM000677.1:g.75042126T>A | GRCh37 |
NC_000015.8:g.72829179T>A | NCBI36 |
NG_008431.1:g.32244T>A | |
NG_008431.2:g.32244T>A | |
NG_061543.1:g.5941T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.47T>A MANE Select | ENSP00000342007.4:p.Leu16Gln | |
ENST00000343932.4:c.47T>A | ENSP00000342007.4:p.Leu16Gln | |
NM_000761.4:c.47T>A | NP_000752.2:p.Leu16Gln | |
NM_000761.5:c.47T>A MANE Select | NP_000752.2:p.Leu16Gln |