HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721946A= , CM000668.2:g.42721946A= | GRCh38 |
NC_000006.11:g.42689684A= , CM000668.1:g.42689684A= | GRCh37 |
NC_000006.10:g.42797662A= | NCBI36 |
NG_009176.1:g.5675T= | |
NG_009176.2:g.5675T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.389T= MANE Select | ENSP00000230381.5:p.Leu130= | |
ENST00000230381.6:c.389T= | ENSP00000230381.5:p.Leu130= | |
NM_000322.4:c.389T= | NP_000313.2:p.Leu130= | |
XR_427834.2:n.1044T= | ||
XR_926295.1:n.1044T= | ||
XR_427834.4:n.1094T= | ||
XR_926295.3:n.1094T= | ||
NM_000322.5:c.389T= MANE Select | NP_000313.2:p.Leu130= |