HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133691749T>G , CM000665.2:g.133691749T>G | GRCh38 |
NC_000003.11:g.133410593T>G , CM000665.1:g.133410593T>G | GRCh37 |
NC_000003.10:g.134893283T>G | NCBI36 |
NG_013080.2:g.34752T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460564.5:n.209+3385T>G (INHCAP) | ||
ENST00000475455.1:n.200T>G (INHCAP) | ||
ENST00000490470.5:n.209+3385T>G (INHCAP) | ||
ENST00000497521.5:n.208+3385T>G (INHCAP) | ||
XM_011513100.1:c.-1289+3385T>G (TF) | XP_011511402.1:n.-1289+3385T>G | |
NM_001354703.1:c.-940+3385T>G (TF) | NP_001341632.1:n.-940+3385T>G | |
NM_001354703.2:c.-940+3385T>G (TF) | NP_001341632.2:n.-940+3385T>G |