HGVS | Genome Assembly |
---|---|
NC_000020.11:g.38363544C>A , CM000682.2:g.38363544C>A | GRCh38 |
NC_000020.10:g.36992198C>A , CM000682.1:g.36992198C>A | GRCh37 |
NC_000020.9:g.36425612C>A | NCBI36 |
NG_034239.1:g.22134C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217407.3:c.653-431C>A MANE Select | ENSP00000217407.2:n.653-431C>A | |
ENST00000217407.2:c.653-431C>A | ENSP00000217407.2:n.653-431C>A | |
NM_004139.4:c.653-431C>A | NP_004130.2:n.653-431C>A | |
NM_004139.5:c.653-431C>A MANE Select | NP_004130.2:n.653-431C>A |