HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539691C>A , CM000663.2:g.100539691C>A | GRCh38 |
NC_000001.10:g.101005247C>A , CM000663.1:g.101005247C>A | GRCh37 |
NC_000001.9:g.100777835C>A | NCBI36 |
NG_053134.1:g.6520C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.725C>A MANE Select | ENSP00000314223.4:p.Ala242Asp | |
ENST00000315033.4:c.725C>A | ENSP00000314223.4:p.Ala242Asp | |
NM_022049.2:c.725C>A | NP_071332.2:p.Ala242Asp | |
NM_022049.3:c.725C>A MANE Select | NP_071332.2:p.Ala242Asp |