HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012048C>A , CM000679.2:g.8012048C>A | GRCh38 |
NC_000017.10:g.7915366C>A , CM000679.1:g.7915366C>A | GRCh37 |
NC_000017.9:g.7856091C>A | NCBI36 |
NG_009092.1:g.14379C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.1750-96C>A MANE Select | ENSP00000254854.4:n.1750-96C>A | |
ENST00000254854.4:c.1750-96C>A | ENSP00000254854.4:n.1750-96C>A | |
NM_000180.3:c.1750-96C>A | NP_000171.1:n.1750-96C>A | |
XM_011523816.1:c.1750-96C>A | XP_011522118.1:n.1750-96C>A | |
NM_000180.4:c.1750-96C>A MANE Select | NP_000171.1:n.1750-96C>A |