Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353481T= , CM000674.2:g.69353481T= | GRCh38 |
| NC_000012.11:g.69747261T= , CM000674.1:g.69747261T= | GRCh37 |
| NC_000012.10:g.68033528T= | NCBI36 |
| NG_008195.1:g.10128T= , LRG_768:g.10128T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*262T= MANE Select | ENSP00000261267.2:n.*262T= | |
| ENST00000261267.6:c.*262T= | ENSP00000261267.2:n.*262T= | |
| ENST00000549690.1:c.*216T= | ENSP00000449898.1:n.*216T= | |
| NM_000239.2:c.*262T= , LRG_768t1:c.*262T= | NP_000230.1:n.*262T= | |
| NM_000239.3:c.*262T= MANE Select | NP_000230.1:n.*262T= |