HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23200712G>T , CM000670.2:g.23200712G>T | GRCh38 |
NC_000008.10:g.23058225G>T , CM000670.1:g.23058225G>T | GRCh37 |
NC_000008.9:g.23114170G>T | NCBI36 |
NG_032107.1:g.29456C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221132.8:c.678C>A MANE Select | ENSP00000221132.3:p.Asp226Glu | |
ENST00000221132.7:c.678C>A | ENSP00000221132.3:p.Asp226Glu | |
ENST00000524158.5:c.72C>A | ENSP00000428884.1:p.Asp24Glu | |
ENST00000613472.1:c.204C>A | ENSP00000480778.1:p.Asp68Glu | |
NM_003844.3:c.678C>A | NP_003835.3:p.Asp226Glu | |
NM_003844.4:c.678C>A MANE Select | NP_003835.3:p.Asp226Glu |