Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478548A= , CM000670.2:g.81478548A= | GRCh38 |
| NC_000008.10:g.82390783A= , CM000670.1:g.82390783A= | GRCh37 |
| NC_000008.9:g.82553338A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*317T= MANE Select | ENSP00000256104.4:n.*317T= | |
| ENST00000256104.4:c.*317T= | ENSP00000256104.4:n.*317T= | |
| NM_001442.2:c.*317T= | NP_001433.1:n.*317T= | |
| XR_001745980.1:n.514+16574A= | ||
| NM_001442.3:c.*317T= MANE Select | NP_001433.1:n.*317T= |