Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31059582T= , CM000680.2:g.31059582T= | GRCh38 |
| NC_000018.9:g.28639548T= , CM000680.1:g.28639548T= | GRCh37 |
| NC_000018.8:g.26893546T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024422.6:c.*8433A= MANE Select | NP_077740.1:n.*8433A= |
| ENST00000280904.11:c.*8433A= MANE Select | ENSP00000280904.6:n.*8433A= |
| NM_004949.5:c.*8641A= | NP_004940.1:n.*8641A= |
| ENST00000251081.8:c.*8641A= | ENSP00000251081.6:n.*8641A= |
| ENST00000280904.10:c.*8433A= | ENSP00000280904.6:n.*8433A= |