HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74751846A= , CM000677.2:g.74751846A= | GRCh38 |
NC_000015.9:g.75044187A= , CM000677.1:g.75044187A= | GRCh37 |
NC_000015.8:g.72831240A= | NCBI36 |
NG_008431.1:g.34305A= | |
NG_008431.2:g.34305A= | |
NG_061543.1:g.8002A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1034A= MANE Select | ENSP00000342007.4:p.Lys345= | |
ENST00000343932.4:c.1034A= | ENSP00000342007.4:p.Lys345= | |
NM_000761.4:c.1034A= | NP_000752.2:p.Lys345= | |
NM_000761.5:c.1034A= MANE Select | NP_000752.2:p.Lys345= |