HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133691627C>T , CM000665.2:g.133691627C>T | GRCh38 |
NC_000003.11:g.133410471C>T , CM000665.1:g.133410471C>T | GRCh37 |
NC_000003.10:g.134893161C>T | NCBI36 |
NG_013080.2:g.34630C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460564.5:n.209+3263C>T (INHCAP) | ||
ENST00000475455.1:n.174-96C>T (INHCAP) | ||
ENST00000490470.5:n.209+3263C>T (INHCAP) | ||
ENST00000497521.5:n.208+3263C>T (INHCAP) | ||
XM_011513100.1:c.-1289+3263C>T (TF) | XP_011511402.1:n.-1289+3263C>T | |
NM_001354703.1:c.-940+3263C>T (TF) | NP_001341632.1:n.-940+3263C>T | |
NM_001354703.2:c.-940+3263C>T (TF) | NP_001341632.2:n.-940+3263C>T |