HGVS | Genome Assembly |
---|---|
NC_000011.10:g.128891389G>A , CM000673.2:g.128891389G>A | GRCh38 |
NC_000011.9:g.128761284G>A , CM000673.1:g.128761284G>A | GRCh37 |
NC_000011.8:g.128266494G>A | NCBI36 |
NG_023406.2:g.4972G>A , LRG_333:g.4972G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529694.6:c.-343G>A MANE Select | ENSP00000433295.1:n.-343G>A | |
ENST00000529694.5:c.-343G>A | ENSP00000433295.1:n.-343G>A | |
NM_000890.4:c.-343G>A | NP_000881.3:n.-343G>A | |
NM_001354169.1:c.-432G>A | NP_001341098.1:n.-432G>A | |
NM_000890.5:c.-343G>A MANE Select | NP_000881.3:n.-343G>A | |
NM_001354169.2:c.-432G>A | NP_001341098.1:n.-432G>A |