Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359129A= , CM000680.2:g.59359129A= | GRCh38 |
| NC_000018.9:g.57026361A= , CM000680.1:g.57026361A= | GRCh37 |
| NC_000018.8:g.55177341A= | NCBI36 |
| NG_012097.1:g.5148T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005570.4:c.116T= MANE Select | NP_005561.1:p.Val39= |
| ENST00000251047.6:c.116T= MANE Select | ENSP00000251047.4:p.Val39= |
| NM_005570.3:c.116T= | NP_005561.1:p.Val39= |
| ENST00000251047.5:c.116T= | ENSP00000251047.4:p.Val39= |
| ENST00000587561.1:n.137T= |