HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133744428G>A , CM000665.2:g.133744428G>A | GRCh38 |
NC_000003.11:g.133463272G>A , CM000665.1:g.133463272G>A | GRCh37 |
NC_000003.10:g.134945962G>A | NCBI36 |
NG_013080.1:g.3296G>A | |
NG_013080.2:g.87431G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460564.5:n.382-9167G>A (INHCAP) | ||
XM_011513100.1:c.-438-1575G>A (TF) | XP_011511402.1:n.-438-1575G>A | |
NM_001354703.1:c.-89-3984G>A (TF) | NP_001341632.1:n.-89-3984G>A | |
NM_001354703.2:c.-89-3984G>A (TF) | NP_001341632.2:n.-89-3984G>A |