HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71948427T>A , CM000674.2:g.71948427T>A | GRCh38 |
NC_000012.11:g.72342207T>A , CM000674.1:g.72342207T>A | GRCh37 |
NC_000012.10:g.70628474T>A | NCBI36 |
NG_008279.1:g.14582T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.541-1161T>A MANE Select | ENSP00000329093.3:n.541-1161T>A | |
ENST00000333850.3:c.541-1161T>A | ENSP00000329093.3:n.541-1161T>A | |
ENST00000546576.1:n.551-1161T>A | ||
NM_173353.3:c.541-1161T>A | NP_775489.2:n.541-1161T>A | |
XM_011537899.1:c.-55+423T>A | XP_011536201.1:n.-55+423T>A | |
XR_245894.2:n.641-1161T>A | ||
XR_001748575.1:n.641-1161T>A | ||
NM_173353.4:c.541-1161T>A MANE Select | NP_775489.2:n.541-1161T>A |