HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333586T>A , CM000673.2:g.47333586T>A | GRCh38 |
NC_000011.9:g.47355137T>A , CM000673.1:g.47355137T>A | GRCh37 |
NC_000011.8:g.47311713T>A | NCBI36 |
NG_007667.1:g.24117A>T , LRG_386:g.24117A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3161A>T MANE Select | ENSP00000442795.1:p.Asp1054Val | |
ENST00000256993.8:c.3161A>T | ENSP00000256993.5:p.Asp1054Val | |
ENST00000399249.6:c.3161A>T | ENSP00000382193.2:p.Asp1054Val | |
ENST00000545968.5:c.3161A>T | ENSP00000442795.1:p.Asp1054Val | |
NM_000256.3:c.3161A>T , LRG_386t1:c.3161A>T MANE Select | NP_000247.2:p.Asp1054Val | |
XM_011520117.1:c.3143A>T | XP_011518419.1:p.Asp1048Val | |
XM_011520118.1:c.3080A>T | XP_011518420.1:p.Asp1027Val |