HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42722011G>A , CM000668.2:g.42722011G>A | GRCh38 |
NC_000006.11:g.42689749G>A , CM000668.1:g.42689749G>A | GRCh37 |
NC_000006.10:g.42797727G>A | NCBI36 |
NG_009176.1:g.5610C>T | |
NG_009176.2:g.5610C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.324C>T MANE Select | ENSP00000230381.5:p.Phe108= | |
ENST00000230381.6:c.324C>T | ENSP00000230381.5:p.Phe108= | |
NM_000322.4:c.324C>T | NP_000313.2:p.Phe108= | |
XR_427834.2:n.979C>T | ||
XR_926295.1:n.979C>T | ||
XR_427834.4:n.1029C>T | ||
XR_926295.3:n.1029C>T | ||
NM_000322.5:c.324C>T MANE Select | NP_000313.2:p.Phe108= |