HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300834T>A , CM000667.2:g.128300834T>A | GRCh38 |
NC_000005.9:g.127636526T>A , CM000667.1:g.127636526T>A | GRCh37 |
NC_000005.8:g.127664425T>A | NCBI36 |
NG_008750.1:g.242210A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2933A>T | ||
ENST00000703785.1:n.2852A>T | ||
ENST00000262464.9:c.6149A>T MANE Select | ENSP00000262464.4:p.Lys2050Ile | |
ENST00000262464.8:c.6149A>T | ENSP00000262464.4:p.Lys2050Ile | |
ENST00000508053.5:c.6149A>T | ENSP00000424571.1:p.Lys2050Ile | |
ENST00000619499.4:c.6146A>T | ENSP00000482132.1:p.Lys2049Ile | |
NM_001999.3:c.6149A>T | NP_001990.2:p.Lys2050Ile | |
XM_017009228.2:c.5996A>T | XP_016864717.1:p.Lys1999Ile | |
NM_001999.4:c.6149A>T MANE Select | NP_001990.2:p.Lys2050Ile |