HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177993041A= , CM000667.2:g.177993041A= | GRCh38 |
NC_000005.9:g.177420042A= , CM000667.1:g.177420042A= | GRCh37 |
NC_000005.8:g.177352648A= | NCBI36 |
NG_015889.1:g.8202T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.349T= MANE Select | ENSP00000311290.2:p.Phe117= | |
NM_006261.4:c.349T= | NP_006252.3:p.Phe117= | |
NM_006261.5:c.349T= MANE Select | NP_006252.4:p.Phe117= |