HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740503T>C , CM000666.2:g.67740503T>C | GRCh38 |
NC_000004.11:g.68606221T>C , CM000666.1:g.68606221T>C | GRCh37 |
NC_000004.10:g.68288816T>C | NCBI36 |
NG_009293.1:g.20584A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.964A>G MANE Select | ENSP00000226413.5:p.Ile322Val | |
ENST00000226413.4:c.964A>G | ENSP00000226413.4:p.Ile322Val | |
ENST00000420975.2:c.836A>G | ENSP00000397561.2:n.836A>G | |
NM_000406.2:c.964A>G | NP_000397.1:p.Ile322Val | |
NM_001012763.1:c.*86A>G | NP_001012781.1:n.*86A>G | |
NM_000406.3:c.964A>G MANE Select | NP_000397.1:p.Ile322Val | |
NM_001012763.2:c.*86A>G | NP_001012781.1:n.*86A>G |