HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159315010T>A , CM000667.2:g.159315010T>A | GRCh38 |
NC_000005.9:g.158742018T>A , CM000667.1:g.158742018T>A | GRCh37 |
NC_000005.8:g.158674596T>A | NCBI36 |
NG_009618.1:g.20464A>T , LRG_71:g.20464A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.*1091A>T | ENSP00000512849.1:n.*1091A>T | |
ENST00000696751.1:c.*1573A>T | ENSP00000512850.1:n.*1573A>T | |
ENST00000231228.3:c.*1091A>T MANE Select | ENSP00000231228.2:n.*1091A>T | |
ENST00000231228.2:c.*1091A>T | ENSP00000231228.2:n.*1091A>T | |
NM_002187.2:c.*1091A>T , LRG_71t1:c.*1091A>T | NP_002178.2:n.*1091A>T | |
XR_941138.1:n.364-208T>A | ||
XR_941138.2:n.431-208T>A | ||
NM_002187.3:c.*1091A>T MANE Select | NP_002178.2:n.*1091A>T |