HGVS | Genome Assembly |
---|---|
NC_000009.12:g.78304893A>G , CM000671.2:g.78304893A>G | GRCh38 |
NC_000009.11:g.80919809A>G , CM000671.1:g.80919809A>G | GRCh37 |
NC_000009.10:g.80109629A>G | NCBI36 |
NG_012165.1:g.12751A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376588.4:c.350A>G MANE Select | ENSP00000365773.3:p.Lys117Arg | |
ENST00000347159.6:c.350A>G | ENSP00000317606.2:p.Lys117Arg | |
ENST00000376588.3:c.350A>G | ENSP00000365773.3:p.Lys117Arg | |
NM_021154.4:c.350A>G | NP_066977.1:p.Lys117Arg | |
NM_058179.3:c.350A>G | NP_478059.1:p.Lys117Arg | |
NM_058179.4:c.350A>G MANE Select | NP_478059.1:p.Lys117Arg | |
NM_021154.5:c.350A>G | NP_066977.1:p.Lys117Arg |