HGVS | Genome Assembly |
---|---|
NC_000001.11:g.27405070C>A , CM000663.2:g.27405070C>A | GRCh38 |
NC_000001.10:g.27731574C>A , CM000663.1:g.27731574C>A | GRCh37 |
NC_000001.9:g.27604161C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000618852.5:c.*3119G>T MANE Select | ENSP00000483313.1:n.*3119G>T | |
ENST00000618852.4:c.*3119G>T | ENSP00000483313.1:n.*3119G>T | |
NM_001201404.2:c.*3255G>T | NP_001188333.1:n.*3255G>T | |
NM_006990.4:c.*3119G>T | NP_008921.1:n.*3119G>T | |
NM_006990.5:c.*3119G>T MANE Select | NP_008921.1:n.*3119G>T | |
NM_001201404.3:c.*3255G>T | NP_001188333.1:n.*3255G>T |