HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940287C>A , CM000678.2:g.67940287C>A | GRCh38 |
NC_000016.9:g.67974190C>A , CM000678.1:g.67974190C>A | GRCh37 |
NC_000016.8:g.66531691C>A | NCBI36 |
NG_009778.1:g.8826G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.940G>T MANE Select | ENSP00000264005.5:p.Gly314Cys | |
ENST00000264005.9:c.940G>T | ENSP00000264005.5:p.Gly314Cys | |
ENST00000570369.5:c.156-213G>T | ||
ENST00000570980.1:c.724G>T | ENSP00000464651.1:p.Gly242Cys | |
ENST00000573538.5:c.678G>T | ENSP00000463220.1:n.678G>T | |
NM_000229.1:c.940G>T | NP_000220.1:p.Gly314Cys | |
NM_000229.2:c.940G>T MANE Select | NP_000220.1:p.Gly314Cys |