HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133691817A= , CM000665.2:g.133691817A= | GRCh38 |
NC_000003.11:g.133410661A= , CM000665.1:g.133410661A= | GRCh37 |
NC_000003.10:g.134893351A= | NCBI36 |
NG_013080.2:g.34820A= |
HGVS | Amino-acid Change |
---|---|
NM_001354703.1:c.-940+3453A= (TF) | NP_001341632.1:n.-940+3453A= |
NM_001354703.2:c.-940+3453A= (TF) | NP_001341632.2:n.-940+3453A= |
ENST00000460564.5:n.209+3453A= (INHCAP) | |
ENST00000475455.1:n.268A= (INHCAP) | |
ENST00000490470.5:n.209+3453A= (INHCAP) | |
ENST00000497521.5:n.208+3453A= (INHCAP) | |
XM_011513100.1:c.-1289+3453A= (TF) | XP_011511402.1:n.-1289+3453A= |