Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696021T= , CM000669.2:g.107696021T= | GRCh38 |
| NC_000007.13:g.107336466T= , CM000669.1:g.107336466T= | GRCh37 |
| NC_000007.12:g.107123702T= | NCBI36 |
| NG_008489.1:g.40387T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1526T= MANE Select | ENSP00000494017.1:p.Val509= | |
| ENST00000644846.1:c.237T= | ||
| ENST00000265715.7:c.1526T= | ENSP00000265715.3:p.Val509= | |
| ENST00000477350.5:n.373T= | ||
| ENST00000480841.5:n.375T= | ||
| ENST00000497446.5:n.541T= | ||
| NM_000441.1:c.1526T= | NP_000432.1:p.Val509= | |
| XM_005250425.1:c.1526T= | XP_005250482.1:p.Val509= | |
| XM_005250425.2:c.1526T= | XP_005250482.1:p.Val509= | |
| XM_017012318.1:c.1448T= | XP_016867807.1:p.Val483= | |
| NM_000441.2:c.1526T= MANE Select | NP_000432.1:p.Val509= |