HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337696T>A , CM000673.2:g.47337696T>A | GRCh38 |
NC_000011.9:g.47359247T>A , CM000673.1:g.47359247T>A | GRCh37 |
NC_000011.8:g.47315823T>A | NCBI36 |
NG_007667.1:g.20007A>T , LRG_386:g.20007A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2407A>T MANE Select | ENSP00000442795.1:p.Ile803Phe | |
ENST00000256993.8:c.2407A>T | ENSP00000256993.5:p.Ile803Phe | |
ENST00000399249.6:c.2407A>T | ENSP00000382193.2:p.Ile803Phe | |
ENST00000544791.1:c.2407A>T | ENSP00000444259.1:p.Ile803Phe | |
ENST00000545968.5:c.2407A>T | ENSP00000442795.1:p.Ile803Phe | |
NM_000256.3:c.2407A>T , LRG_386t1:c.2407A>T MANE Select | NP_000247.2:p.Ile803Phe | |
XM_011520117.1:c.2389A>T | XP_011518419.1:p.Ile797Phe | |
XM_011520118.1:c.2326A>T | XP_011518420.1:p.Ile776Phe |