HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536410C>T , CM000679.2:g.42536410C>T | GRCh38 |
NC_000017.10:g.40688428C>T , CM000679.1:g.40688428C>T | GRCh37 |
NC_000017.9:g.37941954C>T | NCBI36 |
NG_011552.1:g.5478C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.138C>T MANE Select | ENSP00000225927.1:p.Ala46= | |
ENST00000225927.6:c.138C>T | ENSP00000225927.1:p.Ala46= | |
NM_000263.3:c.138C>T | NP_000254.2:p.Ala46= | |
XM_024450771.1:c.138C>T | XP_024306539.1:p.Ala46= | |
NM_000263.4:c.138C>T MANE Select | NP_000254.2:p.Ala46= |