HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013258T>A , CM000685.2:g.25013258T>A | GRCh38 |
NC_000023.10:g.25031375T>A , CM000685.1:g.25031375T>A | GRCh37 |
NC_000023.9:g.24941296T>A | NCBI36 |
NG_008281.1:g.7691A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.737A>T MANE Select | ENSP00000368332.4:p.Asp246Val | |
ENST00000379044.4:c.737A>T | ENSP00000368332.4:p.Asp246Val | |
NM_139058.2:c.737A>T | NP_620689.1:p.Asp246Val | |
NM_139058.3:c.737A>T MANE Select | NP_620689.1:p.Asp246Val |