Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696006T>G , CM000669.2:g.107696006T>G | GRCh38 |
| NC_000007.13:g.107336451T>G , CM000669.1:g.107336451T>G | GRCh37 |
| NC_000007.12:g.107123687T>G | NCBI36 |
| NG_008489.1:g.40372T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1511T>G MANE Select | ENSP00000494017.1:p.Phe504Cys | |
| ENST00000644846.1:c.222T>G | ||
| ENST00000265715.7:c.1511T>G | ENSP00000265715.3:p.Phe504Cys | |
| ENST00000477350.5:n.358T>G | ||
| ENST00000480841.5:n.360T>G | ||
| ENST00000497446.5:n.526T>G | ||
| NM_000441.1:c.1511T>G | NP_000432.1:p.Phe504Cys | |
| XM_005250425.1:c.1511T>G | XP_005250482.1:p.Phe504Cys | |
| XM_005250425.2:c.1511T>G | XP_005250482.1:p.Phe504Cys | |
| XM_017012318.1:c.1433T>G | XP_016867807.1:p.Phe478Cys | |
| NM_000441.2:c.1511T>G MANE Select | NP_000432.1:p.Phe504Cys |