Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704344T= , CM000669.2:g.107704344T= | GRCh38 |
| NC_000007.13:g.107344789T= , CM000669.1:g.107344789T= | GRCh37 |
| NC_000007.12:g.107132025T= | NCBI36 |
| NG_008489.1:g.48710T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.2048T= MANE Select | NP_000432.1:p.Phe683= |
| ENST00000644269.2:c.2048T= MANE Select | ENSP00000494017.1:p.Phe683= |
| NM_000441.1:c.2048T= | NP_000432.1:p.Phe683= |
| ENST00000265715.7:c.2048T= | ENSP00000265715.3:p.Phe683= |
| ENST00000492030.2:n.335T= | |
| ENST00000644846.1:c.745+2287T= | |
| XM_005250425.1:c.2048T= | XP_005250482.1:p.Phe683= |
| XM_005250425.2:c.2048T= | XP_005250482.1:p.Phe683= |
| XM_017012318.1:c.1970T= | XP_016867807.1:p.Phe657= |