Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133745840G= , CM000665.2:g.133745840G= | GRCh38 |
| NC_000003.11:g.133464684G= , CM000665.1:g.133464684G= | GRCh37 |
| NC_000003.10:g.134947374G= | NCBI36 |
| NG_013080.1:g.4708G= | |
| NG_013080.2:g.88843G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001354703.1:c.-89-2572G= (TF) | NP_001341632.1:n.-89-2572G= |
| NM_001354703.2:c.-89-2572G= (TF) | NP_001341632.2:n.-89-2572G= |
| ENST00000460564.5:n.382-7755G= (INHCAP) | |
| XM_011513100.1:c.-438-163G= (TF) | XP_011511402.1:n.-438-163G= |