HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71943037A>G , CM000674.2:g.71943037A>G | GRCh38 |
NC_000012.11:g.72336817A>G , CM000674.1:g.72336817A>G | GRCh37 |
NC_000012.10:g.70623084A>G | NCBI36 |
NG_008279.1:g.9192A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.256-1257A>G MANE Select | ENSP00000329093.3:n.256-1257A>G | |
ENST00000333850.3:c.256-1257A>G | ENSP00000329093.3:n.256-1257A>G | |
ENST00000546576.1:n.266-1257A>G | ||
NM_173353.3:c.256-1257A>G | NP_775489.2:n.256-1257A>G | |
XR_245894.2:n.356-1257A>G | ||
XR_001748575.1:n.356-1257A>G | ||
NM_173353.4:c.256-1257A>G MANE Select | NP_775489.2:n.256-1257A>G |