HGVS | Genome Assembly |
---|---|
NC_000011.10:g.128891392G>T , CM000673.2:g.128891392G>T | GRCh38 |
NC_000011.9:g.128761287G>T , CM000673.1:g.128761287G>T | GRCh37 |
NC_000011.8:g.128266497G>T | NCBI36 |
NG_023406.2:g.4975G>T , LRG_333:g.4975G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529694.6:c.-340G>T MANE Select | ENSP00000433295.1:n.-340G>T | |
ENST00000529694.5:c.-340G>T | ENSP00000433295.1:n.-340G>T | |
NM_000890.4:c.-340G>T | NP_000881.3:n.-340G>T | |
NM_001354169.1:c.-429G>T | NP_001341098.1:n.-429G>T | |
NM_000890.5:c.-340G>T MANE Select | NP_000881.3:n.-340G>T | |
NM_001354169.2:c.-429G>T | NP_001341098.1:n.-429G>T |