HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72122778A= , CM000679.2:g.72122778A= | GRCh38 |
NC_000017.10:g.70118919A= , CM000679.1:g.70118919A= | GRCh37 |
NC_000017.9:g.67630514A= | NCBI36 |
NG_012490.1:g.6759A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.491A= MANE Select | ENSP00000245479.2:p.Gln164= | |
ENST00000245479.2:c.491A= | ENSP00000245479.2:p.Gln164= | |
NM_000346.3:c.491A= | NP_000337.1:p.Gln164= | |
NM_000346.4:c.491A= MANE Select | NP_000337.1:p.Gln164= |