HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2276688C>T , CM000678.2:g.2276688C>T | GRCh38 |
NC_000016.9:g.2326689C>T , CM000678.1:g.2326689C>T | GRCh37 |
NC_000016.8:g.2266690C>T | NCBI36 |
NG_011790.1:g.69059G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.5101G>A MANE Select | ENSP00000301732.5:p.Glu1701Lys | |
ENST00000301732.9:c.5101G>A | ENSP00000301732.5:p.Glu1701Lys | |
ENST00000382381.7:c.4927G>A | ENSP00000371818.3:p.Glu1643Lys | |
NM_001089.2:c.5101G>A | NP_001080.2:p.Glu1701Lys | |
NM_001089.3:c.5101G>A MANE Select | NP_001080.2:p.Glu1701Lys |