HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333604C>A , CM000673.2:g.47333604C>A | GRCh38 |
NC_000011.9:g.47355155C>A , CM000673.1:g.47355155C>A | GRCh37 |
NC_000011.8:g.47311731C>A | NCBI36 |
NG_007667.1:g.24099G>T , LRG_386:g.24099G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3143G>T MANE Select | ENSP00000442795.1:p.Arg1048Leu | |
ENST00000256993.8:c.3143G>T | ENSP00000256993.5:p.Arg1048Leu | |
ENST00000399249.6:c.3143G>T | ENSP00000382193.2:p.Arg1048Leu | |
ENST00000545968.5:c.3143G>T | ENSP00000442795.1:p.Arg1048Leu | |
NM_000256.3:c.3143G>T , LRG_386t1:c.3143G>T MANE Select | NP_000247.2:p.Arg1048Leu | |
XM_011520117.1:c.3125G>T | XP_011518419.1:p.Arg1042Leu | |
XM_011520118.1:c.3062G>T | XP_011518420.1:p.Arg1021Leu |