HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835445T>A , CM000670.2:g.117835445T>A | GRCh38 |
NC_000008.10:g.118847684T>A , CM000670.1:g.118847684T>A | GRCh37 |
NC_000008.9:g.118916865T>A | NCBI36 |
NG_007455.2:g.281375A>T , LRG_493:g.281375A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.630A>T | ||
ENST00000378204.7:c.1163A>T MANE Select | ENSP00000367446.3:p.Gln388Leu | |
ENST00000436216.2:c.531A>T | ||
ENST00000378204.6:c.1163A>T | ENSP00000367446.2:p.Gln388Leu | |
ENST00000436216.1:c.531A>T | ||
ENST00000437196.1:c.*54A>T | ENSP00000407299.1:n.*54A>T | |
NM_000127.2:c.1163A>T , LRG_493t1:c.1163A>T | NP_000118.2:p.Gln388Leu | |
NM_000127.3:c.1163A>T MANE Select | NP_000118.2:p.Gln388Leu |