HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740414T>C , CM000666.2:g.67740414T>C | GRCh38 |
NC_000004.11:g.68606132T>C , CM000666.1:g.68606132T>C | GRCh37 |
NC_000004.10:g.68288727T>C | NCBI36 |
NG_009293.1:g.20673A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*66A>G MANE Select | ENSP00000226413.5:n.*66A>G | |
ENST00000226413.4:c.*66A>G | ENSP00000226413.4:n.*66A>G | |
NM_000406.2:c.*66A>G | NP_000397.1:n.*66A>G | |
NM_001012763.1:c.*175A>G | NP_001012781.1:n.*175A>G | |
NM_000406.3:c.*66A>G MANE Select | NP_000397.1:n.*66A>G | |
NM_001012763.2:c.*175A>G | NP_001012781.1:n.*175A>G |