Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114325733T= , CM000671.2:g.114325733T= | GRCh38 |
| NC_000009.11:g.117088013T= , CM000671.1:g.117088013T= | GRCh37 |
| NC_000009.10:g.116127834T= | NCBI36 |
| NG_012108.1:g.7711T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259396.9:c.541-559T= MANE Select | ENSP00000259396.8:n.541-559T= | |
| ENST00000259396.8:c.541-559T= | ENSP00000259396.8:n.541-559T= | |
| NM_000607.2:c.541-559T= | NP_000598.2:n.541-559T= | |
| NM_000607.3:c.541-559T= | NP_000598.2:n.541-559T= | |
| NM_000607.4:c.541-559T= MANE Select | NP_000598.2:n.541-559T= |