HGVS | Genome Assembly |
---|---|
NC_000005.10:g.23508980G>T , CM000667.2:g.23508980G>T | GRCh38 |
NC_000005.9:g.23509089G>T , CM000667.1:g.23509089G>T | GRCh37 |
NC_000005.8:g.23544846G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502755.6:c.-54G>T | ENSP00000425471.2:n.-54G>T | |
ENST00000296682.4:c.-54G>T MANE Select | ENSP00000296682.4:n.-54G>T | |
ENST00000296682.3:c.-54G>T | ENSP00000296682.3:n.-54G>T | |
ENST00000502755.5:c.-54G>T | ENSP00000425471.1:n.-54G>T | |
ENST00000635252.1:c.17-940G>T | ENSP00000489227.1:n.17-940G>T | |
NM_020227.2:c.-54G>T | NP_064612.2:n.-54G>T | |
NM_020227.3:c.-54G>T | NP_064612.2:n.-54G>T | |
NM_001376900.1:c.-54G>T | NP_001363829.1:n.-54G>T | |
NM_020227.4:c.-54G>T MANE Select | NP_064612.2:n.-54G>T |