HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47335107T>A , CM000673.2:g.47335107T>A | GRCh38 |
NC_000011.9:g.47356658T>A , CM000673.1:g.47356658T>A | GRCh37 |
NC_000011.8:g.47313234T>A | NCBI36 |
NG_007667.1:g.22596A>T , LRG_386:g.22596A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2840A>T MANE Select | ENSP00000442795.1:p.His947Leu | |
ENST00000256993.8:c.2840A>T | ENSP00000256993.5:p.His947Leu | |
ENST00000399249.6:c.2840A>T | ENSP00000382193.2:p.His947Leu | |
ENST00000545968.5:c.2840A>T | ENSP00000442795.1:p.His947Leu | |
NM_000256.3:c.2840A>T , LRG_386t1:c.2840A>T MANE Select | NP_000247.2:p.His947Leu | |
XM_011520117.1:c.2822A>T | XP_011518419.1:p.His941Leu | |
XM_011520118.1:c.2759A>T | XP_011518420.1:p.His920Leu |