HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71942988G>C , CM000674.2:g.71942988G>C | GRCh38 |
NC_000012.11:g.72336768G>C , CM000674.1:g.72336768G>C | GRCh37 |
NC_000012.10:g.70623035G>C | NCBI36 |
NG_008279.1:g.9143G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333850.4:c.255+1255G>C MANE Select | ENSP00000329093.3:n.255+1255G>C | |
ENST00000333850.3:c.255+1255G>C | ENSP00000329093.3:n.255+1255G>C | |
ENST00000546576.1:n.265+1255G>C | ||
NM_173353.3:c.255+1255G>C | NP_775489.2:n.255+1255G>C | |
XR_245894.2:n.355+1255G>C | ||
XR_001748575.1:n.355+1255G>C | ||
NM_173353.4:c.255+1255G>C MANE Select | NP_775489.2:n.255+1255G>C |