HGVS | Genome Assembly |
---|---|
NC_000011.10:g.299441T>C , CM000673.2:g.299441T>C | GRCh38 |
NC_000011.9:g.299441T>C , CM000673.1:g.299441T>C | GRCh37 |
NC_000011.8:g.289441T>C | NCBI36 |
NG_032892.1:g.5086A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382614.2:c.50A>G MANE Select | ENSP00000372059.2:p.Lys17Arg | |
NM_001025295.2:c.50A>G | NP_001020466.1:p.Lys17Arg | |
NM_001025295.3:c.50A>G MANE Select | NP_001020466.1:p.Lys17Arg |