HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76968585C>A , CM000667.2:g.76968585C>A | GRCh38 |
NC_000005.9:g.76264410C>A , CM000667.1:g.76264410C>A | GRCh37 |
NC_000005.8:g.76300166C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274368.9:c.812-143C>A MANE Select | ENSP00000274368.4:n.812-143C>A | |
ENST00000274368.8:c.812-143C>A | ENSP00000274368.4:n.812-143C>A | |
ENST00000503763.1:n.227-143C>A | ||
ENST00000514258.1:n.311+5125C>A | ||
NM_001882.3:c.812-143C>A | NP_001873.2:n.812-143C>A | |
XR_948235.1:n.1111+5125C>A | ||
XR_948235.3:n.1091+5125C>A | ||
NM_001882.4:c.812-143C>A MANE Select | NP_001873.2:n.812-143C>A |