HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590542T= , CM000679.2:g.61590542T= | GRCh38 |
NC_000017.10:g.59667903T= , CM000679.1:g.59667903T= | GRCh37 |
NC_000017.9:g.57022685T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.639A= MANE Select | ENSP00000427802.1:p.Leu213= | |
ENST00000521764.2:c.639A= | ENSP00000427802.1:p.Leu213= | |
NM_199290.3:c.639A= | NP_954984.1:p.Leu213= | |
NM_199290.4:c.639A= MANE Select | NP_954984.1:p.Leu213= |