Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33068614A= , CM000668.2:g.33068614A= | GRCh38 |
| NC_000006.11:g.33036391A= , CM000668.1:g.33036391A= | GRCh37 |
| NC_000006.10:g.33144369A= | NCBI36 |
| NG_033241.1:g.17165T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.*12+24T= MANE Select | ENSP00000509163.1:n.*12+24T= | |
| ENST00000419277.5:c.*12+24T= | ENSP00000393566.1:n.*12+24T= | |
| ENST00000437811.1:c.421T= | ||
| ENST00000479107.1:n.1418T= | ||
| NM_001242524.1:c.*12+24T= | NP_001229453.1:n.*12+24T= | |
| NM_001242525.1:c.*12+24T= | NP_001229454.1:n.*12+24T= | |
| NM_033554.3:c.*12+24T= | NP_291032.2:n.*12+24T= | |
| XM_011514559.1:c.628+405T= | XP_011512861.1:n.628+405T= | |
| NM_001242524.2:c.*12+24T= | NP_001229453.1:n.*12+24T= | |
| NM_001242525.2:c.*12+24T= | NP_001229454.1:n.*12+24T= |