HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740632A>C , CM000666.2:g.67740632A>C | GRCh38 |
NC_000004.11:g.68606350A>C , CM000666.1:g.68606350A>C | GRCh37 |
NC_000004.10:g.68288945A>C | NCBI36 |
NG_009293.1:g.20455T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.835T>G MANE Select | ENSP00000226413.5:p.Cys279Gly | |
ENST00000226413.4:c.835T>G | ENSP00000226413.4:p.Cys279Gly | |
ENST00000420975.2:c.707T>G | ENSP00000397561.2:p.Leu236Arg | |
NM_000406.2:c.835T>G | NP_000397.1:p.Cys279Gly | |
NM_001012763.1:c.707T>G | NP_001012781.1:p.Leu236Arg | |
NM_000406.3:c.835T>G MANE Select | NP_000397.1:p.Cys279Gly | |
NM_001012763.2:c.707T>G | NP_001012781.1:p.Leu236Arg |