HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6872708C>T , CM000686.2:g.6872708C>T | GRCh38 |
NC_000024.9:g.6740749C>T , CM000686.1:g.6740749C>T | GRCh37 |
NC_000024.8:g.6800749C>T | NCBI36 |
NG_008011.1:g.6320G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651267.2:c.-12-88G>A MANE Select | ENSP00000498344.1:n.-12-88G>A | |
ENST00000215479.10:c.-12-88G>A | ENSP00000215479.5:n.-12-88G>A | |
ENST00000651267.1:c.-12-88G>A | ENSP00000498344.1:n.-12-88G>A | |
ENST00000215479.9:c.-12-88G>A | ENSP00000215479.5:n.-12-88G>A | |
NM_001143.1:c.-12-88G>A | NP_001134.1:n.-12-88G>A | |
XM_011531472.1:c.-12-88G>A | XP_011529774.1:n.-12-88G>A | |
NM_001364814.1:c.-12-88G>A | NP_001351743.1:n.-12-88G>A | |
NM_001143.2:c.-12-88G>A MANE Select | NP_001134.1:n.-12-88G>A |