Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33065245A>C , CM000668.2:g.33065245A>C | GRCh38 |
| NC_000006.11:g.33033022A>C , CM000668.1:g.33033022A>C | GRCh37 |
| NC_000006.10:g.33141000A>C | NCBI36 |
| NG_033241.1:g.20534T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000692443.1:c.*115T>G MANE Select | ENSP00000509163.1:n.*115T>G |
| NM_001242524.1:c.*115T>G | NP_001229453.1:n.*115T>G |
| NM_001242524.2:c.*115T>G | NP_001229453.1:n.*115T>G |
| NM_001242525.1:c.*115T>G | NP_001229454.1:n.*115T>G |
| NM_001242525.2:c.*115T>G | NP_001229454.1:n.*115T>G |
| NM_033554.3:c.*115T>G | NP_291032.2:n.*115T>G |
| ENST00000419277.5:c.*115T>G | ENSP00000393566.1:n.*115T>G |
| ENST00000479107.1:n.4787T>G | |
| XM_011514559.1:c.*71T>G | XP_011512861.1:n.*71T>G |