HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120737182C>A , CM000674.2:g.120737182C>A | GRCh38 |
NC_000012.11:g.121174985C>A , CM000674.1:g.121174985C>A | GRCh37 |
NC_000012.10:g.119659368C>A | NCBI36 |
NG_007991.1:g.16415C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.360+47C>A MANE Select | ENSP00000242592.4:n.360+47C>A | |
ENST00000242592.8:c.360+47C>A | ENSP00000242592.4:n.360+47C>A | |
ENST00000411593.2:c.360+47C>A | ENSP00000401045.2:n.360+47C>A | |
ENST00000539690.1:n.519C>A | ||
NM_000017.3:c.360+47C>A | NP_000008.1:n.360+47C>A | |
NM_001302554.1:c.360+47C>A | NP_001289483.1:n.360+47C>A | |
NM_000017.4:c.360+47C>A MANE Select | NP_000008.1:n.360+47C>A | |
NM_001302554.2:c.360+47C>A | NP_001289483.1:n.360+47C>A |