HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71943096T>C , CM000674.2:g.71943096T>C | GRCh38 |
NC_000012.11:g.72336876T>C , CM000674.1:g.72336876T>C | GRCh37 |
NC_000012.10:g.70623143T>C | NCBI36 |
NG_008279.1:g.9251T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333850.4:c.256-1198T>C MANE Select | ENSP00000329093.3:n.256-1198T>C | |
ENST00000333850.3:c.256-1198T>C | ENSP00000329093.3:n.256-1198T>C | |
ENST00000546576.1:n.266-1198T>C | ||
NM_173353.3:c.256-1198T>C | NP_775489.2:n.256-1198T>C | |
XR_245894.2:n.356-1198T>C | ||
XR_001748575.1:n.356-1198T>C | ||
NM_173353.4:c.256-1198T>C MANE Select | NP_775489.2:n.256-1198T>C |