HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24952663A>T , CM000670.2:g.24952663A>T | GRCh38 |
NC_000008.10:g.24810176A>T , CM000670.1:g.24810176A>T | GRCh37 |
NC_000008.9:g.24866093A>T | NCBI36 |
NG_008492.1:g.8955T>A , LRG_259:g.8955T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610854.2:c.*147T>A MANE Select | ENSP00000482169.2:n.*147T>A | |
ENST00000610854.1:c.*147T>A | ENSP00000482169.1:n.*147T>A | |
ENST00000619417.1:c.*644T>A | ENSP00000483690.1:n.*644T>A | |
NM_006158.4:c.*147T>A , LRG_259t1:c.*147T>A | NP_006149.2:n.*147T>A | |
NM_006158.5:c.*147T>A MANE Select | NP_006149.2:n.*147T>A |