HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71943000C>T , CM000674.2:g.71943000C>T | GRCh38 |
NC_000012.11:g.72336780C>T , CM000674.1:g.72336780C>T | GRCh37 |
NC_000012.10:g.70623047C>T | NCBI36 |
NG_008279.1:g.9155C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.255+1267C>T MANE Select | ENSP00000329093.3:n.255+1267C>T | |
ENST00000333850.3:c.255+1267C>T | ENSP00000329093.3:n.255+1267C>T | |
ENST00000546576.1:n.265+1267C>T | ||
NM_173353.3:c.255+1267C>T | NP_775489.2:n.255+1267C>T | |
XR_245894.2:n.355+1267C>T | ||
XR_001748575.1:n.355+1267C>T | ||
NM_173353.4:c.255+1267C>T MANE Select | NP_775489.2:n.255+1267C>T |