HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672420T>G , CM000672.2:g.119672420T>G | GRCh38 |
NC_000010.10:g.121431932T>G , CM000672.1:g.121431932T>G | GRCh37 |
NC_000010.9:g.121421922T>G | NCBI36 |
NG_016125.1:g.26051T>G , LRG_742:g.26051T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.673T>G MANE Select | ENSP00000358081.4:p.Phe225Val | |
ENST00000369085.7:c.673T>G | ENSP00000358081.3:p.Phe225Val | |
ENST00000450186.1:c.499T>G | ENSP00000410036.1:p.Phe167Val | |
NM_004281.3:c.673T>G , LRG_742t1:c.673T>G | NP_004272.2:p.Phe225Val | |
XM_005270287.1:c.673T>G | XP_005270344.1:p.Phe225Val | |
XM_005270287.2:c.673T>G | XP_005270344.1:p.Phe225Val | |
NM_004281.4:c.673T>G MANE Select | NP_004272.2:p.Phe225Val |