HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67483033G>A , CM000673.2:g.67483033G>A | GRCh38 |
NC_000011.9:g.67250504G>A , CM000673.1:g.67250504G>A | GRCh37 |
NC_000011.8:g.67007080G>A | NCBI36 |
NG_008969.1:g.5000G>A , LRG_460:g.5000G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682699.1:c.-126G>A | ENSP00000507935.1:n.-126G>A | |
ENST00000279146.8:c.-126G>A MANE Select | ENSP00000279146.3:n.-126G>A | |
NM_001302960.1:c.-126G>A | NP_001289889.1:n.-126G>A | |
NM_003977.3:c.-126G>A | NP_003968.3:n.-126G>A | |
XM_024448761.1:c.-126G>A | XP_024304529.1:n.-126G>A | |
NM_003977.4:c.-126G>A MANE Select | NP_003968.3:n.-126G>A | |
NM_001302960.2:c.-126G>A | NP_001289889.1:n.-126G>A |