HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740649G>A , CM000666.2:g.67740649G>A | GRCh38 |
NC_000004.11:g.68606367G>A , CM000666.1:g.68606367G>A | GRCh37 |
NC_000004.10:g.68288962G>A | NCBI36 |
NG_009293.1:g.20438C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.818C>T MANE Select | ENSP00000226413.5:p.Ala273Val | |
ENST00000226413.4:c.818C>T | ENSP00000226413.4:p.Ala273Val | |
ENST00000420975.2:c.690C>T | ENSP00000397561.2:p.Cys230= | |
NM_000406.2:c.818C>T | NP_000397.1:p.Ala273Val | |
NM_001012763.1:c.690C>T | NP_001012781.1:p.Cys230= | |
NM_000406.3:c.818C>T MANE Select | NP_000397.1:p.Ala273Val | |
NM_001012763.2:c.690C>T | NP_001012781.1:p.Cys230= |