HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536326C>A , CM000679.2:g.42536326C>A | GRCh38 |
NC_000017.10:g.40688344C>A , CM000679.1:g.40688344C>A | GRCh37 |
NC_000017.9:g.37941870C>A | NCBI36 |
NG_011552.1:g.5394C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.54C>A MANE Select | ENSP00000225927.1:p.Ala18= | |
ENST00000225927.6:c.54C>A | ENSP00000225927.1:p.Ala18= | |
NM_000263.3:c.54C>A | NP_000254.2:p.Ala18= | |
XM_024450771.1:c.54C>A | XP_024306539.1:p.Ala18= | |
NM_000263.4:c.54C>A MANE Select | NP_000254.2:p.Ala18= |