HGVS | Genome Assembly |
---|---|
NC_000011.10:g.14076959C>A , CM000673.2:g.14076959C>A | GRCh38 |
NC_000011.9:g.14098506C>A , CM000673.1:g.14098506C>A | GRCh37 |
NC_000011.8:g.14055082C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000576479.4:c.553+1541C>A MANE Select | ENSP00000460236.1:n.553+1541C>A | |
ENST00000576479.3:c.553+1541C>A | ENSP00000460236.1:n.553+1541C>A | |
NM_006108.3:c.553+1541C>A | NP_006099.2:n.553+1541C>A | |
NM_006108.4:c.553+1541C>A MANE Select | NP_006099.2:n.553+1541C>A |