HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13492495T>G , CM000673.2:g.13492495T>G | GRCh38 |
NC_000011.9:g.13514042T>G , CM000673.1:g.13514042T>G | GRCh37 |
NC_000011.8:g.13470618T>G | NCBI36 |
NG_008962.1:g.8526A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282091.6:c.258A>C MANE Select | ENSP00000282091.1:p.Glu86Asp | |
ENST00000282091.5:c.258A>C | ENSP00000282091.1:p.Glu86Asp | |
ENST00000529816.1:c.258A>C | ENSP00000433208.1:p.Glu86Asp | |
NM_000315.2:c.258A>C | NP_000306.1:p.Glu86Asp | |
NM_000315.3:c.258A>C | NP_000306.1:p.Glu86Asp | |
NM_001316352.1:c.354A>C | NP_001303281.1:p.Glu118Asp | |
NM_000315.4:c.258A>C MANE Select | NP_000306.1:p.Glu86Asp | |
NM_001316352.2:c.354A>C | NP_001303281.1:p.Glu118Asp |