HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909496C>A , CM000679.2:g.42909496C>A | GRCh38 |
NC_000017.10:g.41061513C>A , CM000679.1:g.41061513C>A | GRCh37 |
NC_000017.9:g.38315039C>A | NCBI36 |
NG_011808.1:g.13699C>A , LRG_147:g.13699C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.562+78C>A MANE Select | ENSP00000253801.1:n.562+78C>A | |
ENST00000253801.6:c.562+78C>A | ENSP00000253801.1:n.562+78C>A | |
ENST00000585489.1:c.447-1419C>A | ENSP00000466202.1:n.447-1419C>A | |
ENST00000592383.5:c.485+78C>A | ENSP00000465958.1:n.485+78C>A | |
NM_000151.3:c.562+78C>A | NP_000142.2:n.562+78C>A | |
NM_001270397.1:c.485+78C>A | NP_001257326.1:n.485+78C>A | |
NM_000151.4:c.562+78C>A MANE Select | NP_000142.2:n.562+78C>A | |
NM_001270397.2:c.485+78C>A | NP_001257326.1:n.485+78C>A |