HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860272A>G , CM000666.2:g.4860272A>G | GRCh38 |
NC_000004.11:g.4861999A>G , CM000666.1:g.4861999A>G | GRCh37 |
NC_000004.10:g.4912900A>G | NCBI36 |
NG_008121.1:g.5608A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.373A>G MANE Select | ENSP00000372170.4:p.Lys125Glu | |
ENST00000382723.4:c.373A>G | ENSP00000372170.4:p.Lys125Glu | |
NM_002448.3:c.373A>G MANE Select | NP_002439.2:p.Lys125Glu |