HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41178837C= , CM000684.2:g.41178837C= | GRCh38 |
NC_000022.10:g.41574841C= , CM000684.1:g.41574841C= | GRCh37 |
NC_000022.9:g.39904787C= | NCBI36 |
NG_009817.1:g.91228C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263253.9:c.7126C= MANE Select | ENSP00000263253.7:p.Leu2376= | |
ENST00000674155.1:c.7048C= | ENSP00000501078.1:p.Leu2350= | |
ENST00000263253.8:c.7126C= | ENSP00000263253.7:p.Leu2376= | |
NM_001429.3:c.7126C= | NP_001420.2:p.Leu2376= | |
XM_006724165.2:c.7048C= | XP_006724228.1:p.Leu2350= | |
NM_001362843.1:c.7048C= | NP_001349772.1:p.Leu2350= | |
NM_001429.4:c.7126C= MANE Select | NP_001420.2:p.Leu2376= | |
NM_001362843.2:c.7048C= | NP_001349772.1:p.Leu2350= |