HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80674997A>T , CM000667.2:g.80674997A>T | GRCh38 |
NC_000005.9:g.79970816A>T , CM000667.1:g.79970816A>T | GRCh37 |
NC_000005.8:g.80006572A>T | NCBI36 |
NG_016607.1:g.25523A>T | |
NG_016607.2:g.25523A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1042A>T MANE Select | ENSP00000265081.6:p.Ile348Phe | |
ENST00000658259.1:c.874A>T | ENSP00000499617.1:p.Ile292Phe | |
ENST00000667069.1:c.1042A>T | ENSP00000499502.1:p.Ile348Phe | |
ENST00000670357.1:c.1042A>T | ENSP00000499791.1:p.Ile348Phe | |
ENST00000265081.6:c.1042A>T | ENSP00000265081.6:p.Ile348Phe | |
NM_002439.4:c.1042A>T | NP_002430.3:p.Ile348Phe | |
NM_002439.5:c.1042A>T MANE Select | NP_002430.3:p.Ile348Phe |