HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13276938T>A , CM000673.2:g.13276938T>A | GRCh38 |
NC_000011.9:g.13298485T>A , CM000673.1:g.13298485T>A | GRCh37 |
NC_000011.8:g.13255061T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529050.5:c.-216T>A | ENSP00000434044.1:n.-216T>A | |
ENST00000534544.5:c.-342T>A | ENSP00000431566.1:n.-342T>A | |
XR_931047.1:n.635A>T | ||
NM_001351804.1:c.-397T>A | NP_001338733.1:n.-397T>A | |
XM_011520105.3:c.-87T>A | XP_011518407.2:n.-87T>A | |
XM_011520107.3:c.-87T>A | XP_011518409.2:n.-87T>A | |
XM_017017738.2:c.-87T>A | XP_016873227.1:n.-87T>A | |
XM_017017739.2:c.-87T>A | XP_016873228.1:n.-87T>A | |
XR_001747876.2:n.387T>A | ||
XR_002957147.1:n.387T>A | ||
XR_002957148.1:n.387T>A |