HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6885122C>T , CM000686.2:g.6885122C>T | GRCh38 |
NC_000024.9:g.6753163C>T , CM000686.1:g.6753163C>T | GRCh37 |
NC_000024.8:g.6813163C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651267.2:c.-112-11051G>A MANE Select | ENSP00000498344.1:n.-112-11051G>A | |
ENST00000651267.1:c.-112-11051G>A | ENSP00000498344.1:n.-112-11051G>A | |
XM_011531472.1:c.-112-11051G>A | XP_011529774.1:n.-112-11051G>A | |
NM_001143.2:c.-112-11051G>A MANE Select | NP_001134.1:n.-112-11051G>A |