HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820128A>T , CM000682.2:g.31820128A>T | GRCh38 |
NC_000020.10:g.30407931A>T , CM000682.1:g.30407931A>T | GRCh37 |
NC_000020.9:g.29871592A>T | NCBI36 |
NG_012847.1:g.5754A>T , LRG_392:g.5754A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375985.5:c.55A>T MANE Select | ENSP00000365152.4:p.Lys19Ter | |
ENST00000375985.4:c.55A>T | ENSP00000365152.4:p.Lys19Ter | |
ENST00000375994.6:c.55A>T | ENSP00000365162.2:p.Lys19Ter | |
NM_033118.3:c.55A>T , LRG_392t1:c.55A>T | NP_149109.1:p.Lys19Ter | |
XR_244155.1:n.220A>T | ||
NM_033118.4:c.55A>T MANE Select | NP_149109.1:p.Lys19Ter |