HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862810G>A , CM000666.2:g.4862810G>A | GRCh38 |
NC_000004.11:g.4864537G>A , CM000666.1:g.4864537G>A | GRCh37 |
NC_000004.10:g.4915438G>A | NCBI36 |
NG_008121.1:g.8146G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382723.5:c.579G>A MANE Select | ENSP00000372170.4:p.Gln193= | |
ENST00000382723.4:c.579G>A | ENSP00000372170.4:p.Gln193= | |
ENST00000468421.1:n.291G>A | ||
NM_002448.3:c.579G>A MANE Select | NP_002439.2:p.Gln193= |