HGVS | Genome Assembly |
---|---|
NC_000011.10:g.128891376G>C , CM000673.2:g.128891376G>C | GRCh38 |
NC_000011.9:g.128761271G>C , CM000673.1:g.128761271G>C | GRCh37 |
NC_000011.8:g.128266481G>C | NCBI36 |
NG_023406.2:g.4959G>C , LRG_333:g.4959G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529694.6:c.-356G>C MANE Select | ENSP00000433295.1:n.-356G>C | |
ENST00000529694.5:c.-356G>C | ENSP00000433295.1:n.-356G>C | |
NM_000890.4:c.-356G>C | NP_000881.3:n.-356G>C | |
NM_001354169.1:c.-445G>C | NP_001341098.1:n.-445G>C | |
NM_000890.5:c.-356G>C MANE Select | NP_000881.3:n.-356G>C | |
NM_001354169.2:c.-445G>C | NP_001341098.1:n.-445G>C |