HGVS | Genome Assembly |
---|---|
NC_000005.10:g.56537692G>A , CM000667.2:g.56537692G>A | GRCh38 |
NC_000005.9:g.55833519G>A , CM000667.1:g.55833519G>A | GRCh37 |
NC_000005.8:g.55869276G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438651.5:c.33-2464C>T | ENSP00000406718.1:n.33-2464C>T | |
NM_001287053.1:c.33-2464C>T | NP_001273982.1:n.33-2464C>T | |
XR_948343.1:n.1604C>T | ||
XR_948344.1:n.2010C>T | ||
XM_017008942.1:c.33-2464C>T | XP_016864431.1:n.33-2464C>T | |
XR_948344.2:n.2010C>T | ||
NR_161255.1:n.283-2464C>T |