Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488346A= , CM000674.2:g.52488346A= | GRCh38 |
| NC_000012.11:g.52882130A= , CM000674.1:g.52882130A= | GRCh37 |
| NC_000012.10:g.51168397A= | NCBI36 |
| NG_008298.1:g.10052T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.1406T= MANE Select | NP_005545.1:p.Leu469= |
| ENST00000330722.7:c.1406T= MANE Select | ENSP00000369317.3:p.Leu469= |
| NM_005554.3:c.1406T= | NP_005545.1:p.Leu469= |
| ENST00000330722.6:c.1406T= | ENSP00000369317.3:p.Leu469= |