Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133691764G>A , CM000665.2:g.133691764G>A | GRCh38 |
| NC_000003.11:g.133410608G>A , CM000665.1:g.133410608G>A | GRCh37 |
| NC_000003.10:g.134893298G>A | NCBI36 |
| NG_013080.2:g.34767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460564.5:n.209+3400G>A (INHCAP) | ||
| ENST00000475455.1:n.215G>A (INHCAP) | ||
| ENST00000490470.5:n.209+3400G>A (INHCAP) | ||
| ENST00000497521.5:n.208+3400G>A (INHCAP) | ||
| XM_011513100.1:c.-1289+3400G>A (TF) | XP_011511402.1:n.-1289+3400G>A | |
| NM_001354703.1:c.-940+3400G>A (TF) | NP_001341632.1:n.-940+3400G>A | |
| NM_001354703.2:c.-940+3400G>A (TF) | NP_001341632.2:n.-940+3400G>A |