HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575982A= , CM000670.2:g.86575982A= | GRCh38 |
NC_000008.10:g.87588210A= , CM000670.1:g.87588210A= | GRCh37 |
NC_000008.9:g.87657326A= | NCBI36 |
NG_016980.1:g.172694T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.2252T= MANE Select | ENSP00000316605.5:p.Leu751= | |
ENST00000681546.1:n.2072T= | ||
ENST00000681746.1:c.*663T= | ENSP00000505959.1:n.*663T= | |
ENST00000320005.5:c.2252T= | ENSP00000316605.5:p.Leu751= | |
ENST00000517327.5:c.276+2707T= | ENSP00000428329.1:n.276+2707T= | |
NM_019098.4:c.2252T= | NP_061971.3:p.Leu751= | |
XM_011517138.1:c.1838T= | XP_011515440.1:p.Leu613= | |
XM_011517138.2:c.1838T= | XP_011515440.1:p.Leu613= | |
NM_019098.5:c.2252T= MANE Select | NP_061971.3:p.Leu751= |