HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49621712C>A , CM000676.2:g.49621712C>A | GRCh38 |
NC_000014.8:g.50088430C>A , CM000676.1:g.50088430C>A | GRCh37 |
NC_000014.7:g.49158180C>A | NCBI36 |
NG_008920.1:g.5942C>A | |
NG_033054.1:g.3920G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.444C>A MANE Select | ENSP00000307423.2:p.Leu148= | |
ENST00000305386.3:c.444C>A | ENSP00000307423.2:p.Leu148= | |
NM_002408.3:c.444C>A | NP_002399.1:p.Leu148= | |
NM_002408.4:c.444C>A MANE Select | NP_002399.1:p.Leu148= |