HGVS | Genome Assembly |
---|---|
NC_000017.11:g.10409445C>A , CM000679.2:g.10409445C>A | GRCh38 |
NC_000017.10:g.10312762C>A , CM000679.1:g.10312762C>A | GRCh37 |
NC_000017.9:g.10253487C>A | NCBI36 |
NG_013015.1:g.17506G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403437.2:c.1731G>T (MYH8) MANE Select | ENSP00000384330.2:p.Glu577Asp | |
NM_002472.2:c.1731G>T (MYH8) | NP_002463.2:p.Glu577Asp | |
NR_125367.1:n.167+3207C>A (MYHAS) | ||
XM_011523873.1:c.1731G>T (MYH8) | XP_011522175.1:p.Glu577Asp | |
XM_011523874.1:c.1731G>T (MYH8) | XP_011522176.1:p.Glu577Asp | |
NM_002472.3:c.1731G>T (MYH8) MANE Select | NP_002463.2:p.Glu577Asp |