HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155463313C>A , CM000669.2:g.155463313C>A | GRCh38 |
NC_000007.13:g.155256008C>A , CM000669.1:g.155256008C>A | GRCh37 |
NC_000007.12:g.154948769C>A | NCBI36 |
NG_007124.1:g.11594C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297375.4:c.*626C>A MANE Select | ENSP00000297375.4:n.*626C>A | |
NM_001427.3:c.*626C>A | NP_001418.2:n.*626C>A | |
NM_001427.4:c.*626C>A MANE Select | NP_001418.2:n.*626C>A |