HGVS | Genome Assembly |
---|---|
NC_000001.11:g.27405069C>T , CM000663.2:g.27405069C>T | GRCh38 |
NC_000001.10:g.27731573C>T , CM000663.1:g.27731573C>T | GRCh37 |
NC_000001.9:g.27604160C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000618852.5:c.*3120G>A MANE Select | ENSP00000483313.1:n.*3120G>A | |
ENST00000618852.4:c.*3120G>A | ENSP00000483313.1:n.*3120G>A | |
NM_001201404.2:c.*3256G>A | NP_001188333.1:n.*3256G>A | |
NM_006990.4:c.*3120G>A | NP_008921.1:n.*3120G>A | |
NM_006990.5:c.*3120G>A MANE Select | NP_008921.1:n.*3120G>A | |
NM_001201404.3:c.*3256G>A | NP_001188333.1:n.*3256G>A |