Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108250412T= , CM000674.2:g.108250412T= | GRCh38 |
| NC_000012.11:g.108644189T= , CM000674.1:g.108644189T= | GRCh37 |
| NC_000012.10:g.107168319T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014653.4:c.*2069T= MANE Select | NP_055468.2:n.*2069T= |
| ENST00000547525.6:c.*2069T= MANE Select | ENSP00000448047.1:n.*2069T= |
| NM_001304447.1:c.*2069T= | NP_001291376.1:n.*2069T= |
| NM_001304447.2:c.*2069T= | NP_001291376.1:n.*2069T= |
| NM_014653.3:c.*2069T= | NP_055468.2:n.*2069T= |
| ENST00000332082.8:c.*2069T= | ENSP00000331933.4:n.*2069T= |