HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234077C>A , CM000669.2:g.1234077C>A | GRCh38 |
NC_000007.13:g.1273713C>A , CM000669.1:g.1273713C>A | GRCh37 |
NC_000007.12:g.1240239C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316333.9:c.450+382C>A MANE Select | ENSP00000314480.8:n.450+382C>A | |
ENST00000316333.8:c.450+382C>A | ENSP00000314480.8:n.450+382C>A | |
NM_001080461.1:c.450+382C>A | NP_001073930.1:n.450+382C>A | |
NM_001080461.2:c.450+382C>A | NP_001073930.1:n.450+382C>A | |
NM_001080461.3:c.450+382C>A MANE Select | NP_001073930.1:n.450+382C>A |