HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119670003C>A , CM000672.2:g.119670003C>A | GRCh38 |
NC_000010.10:g.121429515C>A , CM000672.1:g.121429515C>A | GRCh37 |
NC_000010.9:g.121419505C>A | NCBI36 |
NG_016125.1:g.23634C>A , LRG_742:g.23634C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.333C>A MANE Select | ENSP00000358081.4:p.Phe111Leu | |
ENST00000369085.7:c.333C>A | ENSP00000358081.3:p.Phe111Leu | |
ENST00000450186.1:c.159C>A | ENSP00000410036.1:p.Phe53Leu | |
NM_004281.3:c.333C>A , LRG_742t1:c.333C>A | NP_004272.2:p.Phe111Leu | |
XM_005270287.1:c.333C>A | XP_005270344.1:p.Phe111Leu | |
XM_005270287.2:c.333C>A | XP_005270344.1:p.Phe111Leu | |
NM_004281.4:c.333C>A MANE Select | NP_004272.2:p.Phe111Leu |