HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71942913T= , CM000674.2:g.71942913T= | GRCh38 |
NC_000012.11:g.72336693T= , CM000674.1:g.72336693T= | GRCh37 |
NC_000012.10:g.70622960T= | NCBI36 |
NG_008279.1:g.9068T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333850.4:c.255+1180T= MANE Select | ENSP00000329093.3:n.255+1180T= | |
ENST00000333850.3:c.255+1180T= | ENSP00000329093.3:n.255+1180T= | |
ENST00000546576.1:n.265+1180T= | ||
NM_173353.3:c.255+1180T= | NP_775489.2:n.255+1180T= | |
XR_245894.2:n.355+1180T= | ||
XR_001748575.1:n.355+1180T= | ||
NM_173353.4:c.255+1180T= MANE Select | NP_775489.2:n.255+1180T= |