HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6872692C>A , CM000686.2:g.6872692C>A | GRCh38 |
NC_000024.9:g.6740733C>A , CM000686.1:g.6740733C>A | GRCh37 |
NC_000024.8:g.6800733C>A | NCBI36 |
NG_008011.1:g.6336G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651267.2:c.-12-72G>T MANE Select | ENSP00000498344.1:n.-12-72G>T | |
ENST00000215479.10:c.-12-72G>T | ENSP00000215479.5:n.-12-72G>T | |
ENST00000651267.1:c.-12-72G>T | ENSP00000498344.1:n.-12-72G>T | |
ENST00000215479.9:c.-12-72G>T | ENSP00000215479.5:n.-12-72G>T | |
NM_001143.1:c.-12-72G>T | NP_001134.1:n.-12-72G>T | |
XM_011531472.1:c.-12-72G>T | XP_011529774.1:n.-12-72G>T | |
NM_001364814.1:c.-12-72G>T | NP_001351743.1:n.-12-72G>T | |
NM_001143.2:c.-12-72G>T MANE Select | NP_001134.1:n.-12-72G>T |