HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49458044A= , CM000668.2:g.49458044A= | GRCh38 |
NC_000006.11:g.49425757A= , CM000668.1:g.49425757A= | GRCh37 |
NC_000006.10:g.49533716A= | NCBI36 |
NG_007100.1:g.10096T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.400T= MANE Select | ENSP00000274813.3:p.Leu134= | |
ENST00000274813.3:c.400T= | ENSP00000274813.3:p.Leu134= | |
NM_000255.3:c.400T= | NP_000246.2:p.Leu134= | |
XM_005249143.2:c.400T= | XP_005249200.1:p.Leu134= | |
XM_005249143.3:c.400T= | XP_005249200.1:p.Leu134= | |
NM_000255.4:c.400T= MANE Select | NP_000246.2:p.Leu134= |