dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133744428G>T , CM000665.2:g.133744428G>T | GRCh38 |
| NC_000003.11:g.133463272G>T , CM000665.1:g.133463272G>T | GRCh37 |
| NC_000003.10:g.134945962G>T | NCBI36 |
| NG_013080.1:g.3296G>T | |
| NG_013080.2:g.87431G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460564.5:n.382-9167G>T (INHCAP) | ||
| XM_011513100.1:c.-438-1575G>T (TF) | XP_011511402.1:n.-438-1575G>T | |
| NM_001354703.1:c.-89-3984G>T (TF) | NP_001341632.1:n.-89-3984G>T | |
| NM_001354703.2:c.-89-3984G>T (TF) | NP_001341632.2:n.-89-3984G>T |