HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155461318C>A , CM000669.2:g.155461318C>A | GRCh38 |
NC_000007.13:g.155254013C>A , CM000669.1:g.155254013C>A | GRCh37 |
NC_000007.12:g.154946774C>A | NCBI36 |
NG_007124.1:g.9599C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297375.4:c.686-1053C>A MANE Select | ENSP00000297375.4:n.686-1053C>A | |
NM_001427.3:c.686-1053C>A | NP_001418.2:n.686-1053C>A | |
NM_001427.4:c.686-1053C>A MANE Select | NP_001418.2:n.686-1053C>A |