HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130185C>A , CM000663.2:g.160130185C>A | GRCh38 |
NC_000001.10:g.160099975C>A , CM000663.1:g.160099975C>A | GRCh37 |
NC_000001.9:g.158366599C>A | NCBI36 |
NG_008014.1:g.19428C>A , LRG_6:g.19428C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.1545C>A MANE Select | ENSP00000354490.3:p.Cys515Ter | |
ENST00000361216.7:c.1545C>A | ENSP00000354490.3:p.Cys515Ter | |
ENST00000392233.7:c.1545C>A | ENSP00000376066.3:p.Cys515Ter | |
ENST00000447527.1:c.677C>A | ||
ENST00000472488.5:n.1648C>A | ||
NM_000702.3:c.1545C>A | NP_000693.1:p.Cys515Ter | |
NM_000702.4:c.1545C>A MANE Select | NP_000693.1:p.Cys515Ter |