Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38421078T= , CM000685.2:g.38421078T= | GRCh38 |
| NC_000023.10:g.38280331T= , CM000685.1:g.38280331T= | GRCh37 |
| NC_000023.9:g.38165275T= | NCBI36 |
| NG_008471.1:g.73596T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.1061T= MANE Select | NP_000522.3:p.Phe354= |
| ENST00000039007.5:c.1061T= MANE Select | ENSP00000039007.4:p.Phe354= |
| NM_000531.5:c.1061T= | NP_000522.3:p.Phe354= |
| ENST00000039007.4:c.1061T= | ENSP00000039007.4:p.Phe354= |
| ENST00000465127.1:c.172-245043T= | ENSP00000417050.1:n.172-245043T= |