Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114181373A>G , CM000665.2:g.114181373A>G | GRCh38 |
| NC_000003.11:g.113900220A>G , CM000665.1:g.113900220A>G | GRCh37 |
| NC_000003.10:g.115382910A>G | NCBI36 |
| NG_008842.2:g.23035T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001282563.2:c.-155-2597T>C | NP_001269492.1:n.-155-2597T>C |
| ENST00000460779.5:c.-155-2597T>C | ENSP00000419402.1:n.-155-2597T>C |
| XM_011512510.1:c.-155-2597T>C | XP_011510812.1:n.-155-2597T>C |
| XM_011512511.1:c.-155-2597T>C | XP_011510813.1:n.-155-2597T>C |
| XM_011512512.1:c.-155-2597T>C | XP_011510814.1:n.-155-2597T>C |
| XM_017005829.1:c.-155-2597T>C | XP_016861318.1:n.-155-2597T>C |