HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47335106G>A , CM000673.2:g.47335106G>A | GRCh38 |
NC_000011.9:g.47356657G>A , CM000673.1:g.47356657G>A | GRCh37 |
NC_000011.8:g.47313233G>A | NCBI36 |
NG_007667.1:g.22597C>T , LRG_386:g.22597C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2841C>T MANE Select | ENSP00000442795.1:p.His947= | |
ENST00000256993.8:c.2841C>T | ENSP00000256993.5:p.His947= | |
ENST00000399249.6:c.2841C>T | ENSP00000382193.2:p.His947= | |
ENST00000545968.5:c.2841C>T | ENSP00000442795.1:p.His947= | |
NM_000256.3:c.2841C>T , LRG_386t1:c.2841C>T MANE Select | NP_000247.2:p.His947= | |
XM_011520117.1:c.2823C>T | XP_011518419.1:p.His941= | |
XM_011520118.1:c.2760C>T | XP_011518420.1:p.His920= |