HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740548A>C , CM000666.2:g.67740548A>C | GRCh38 |
NC_000004.11:g.68606266A>C , CM000666.1:g.68606266A>C | GRCh37 |
NC_000004.10:g.68288861A>C | NCBI36 |
NG_009293.1:g.20539T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.919T>G MANE Select | ENSP00000226413.5:p.Phe307Val | |
ENST00000226413.4:c.919T>G | ENSP00000226413.4:p.Phe307Val | |
ENST00000420975.2:c.791T>G | ENSP00000397561.2:n.791T>G | |
NM_000406.2:c.919T>G | NP_000397.1:p.Phe307Val | |
NM_001012763.1:c.*41T>G | NP_001012781.1:n.*41T>G | |
NM_000406.3:c.919T>G MANE Select | NP_000397.1:p.Phe307Val | |
NM_001012763.2:c.*41T>G | NP_001012781.1:n.*41T>G |