HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133691818T>A , CM000665.2:g.133691818T>A | GRCh38 |
NC_000003.11:g.133410662T>A , CM000665.1:g.133410662T>A | GRCh37 |
NC_000003.10:g.134893352T>A | NCBI36 |
NG_013080.2:g.34821T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460564.5:n.209+3454T>A (INHCAP) | ||
ENST00000475455.1:n.269T>A (INHCAP) | ||
ENST00000490470.5:n.209+3454T>A (INHCAP) | ||
ENST00000497521.5:n.208+3454T>A (INHCAP) | ||
XM_011513100.1:c.-1289+3454T>A (TF) | XP_011511402.1:n.-1289+3454T>A | |
NM_001354703.1:c.-940+3454T>A (TF) | NP_001341632.1:n.-940+3454T>A | |
NM_001354703.2:c.-940+3454T>A (TF) | NP_001341632.2:n.-940+3454T>A |