HGVS | Genome Assembly |
---|---|
NC_000010.11:g.117263169C>A , CM000672.2:g.117263169C>A | GRCh38 |
NC_000010.10:g.119022680C>A , CM000672.1:g.119022680C>A | GRCh37 |
NC_000010.9:g.119012670C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644641.2:c.992-3564C>A MANE Select | ENSP00000496339.1:n.992-3564C>A | |
ENST00000298472.9:c.992-3564C>A | ENSP00000298472.5:n.992-3564C>A | |
ENST00000497497.1:n.1408-3564C>A | ||
NM_003054.4:c.992-3564C>A | NP_003045.2:n.992-3564C>A | |
NM_003054.5:c.992-3564C>A | NP_003045.2:n.992-3564C>A | |
NM_003054.6:c.992-3564C>A MANE Select | NP_003045.2:n.992-3564C>A |