Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6872589A>C , CM000686.2:g.6872589A>C | GRCh38 |
| NC_000024.9:g.6740630A>C , CM000686.1:g.6740630A>C | GRCh37 |
| NC_000024.8:g.6800630A>C | NCBI36 |
| NG_008011.1:g.6439T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.20T>G MANE Select | ENSP00000498344.1:p.Phe7Cys | |
| ENST00000215479.10:c.20T>G | ENSP00000215479.5:p.Phe7Cys | |
| ENST00000651267.1:c.20T>G | ENSP00000498344.1:p.Phe7Cys | |
| ENST00000215479.9:c.20T>G | ENSP00000215479.5:p.Phe7Cys | |
| ENST00000383036.1:c.20T>G | ENSP00000372505.1:p.Phe7Cys | |
| NM_001143.1:c.20T>G | NP_001134.1:p.Phe7Cys | |
| XM_011531472.1:c.20T>G | XP_011529774.1:p.Phe7Cys | |
| NM_001364814.1:c.20T>G | NP_001351743.1:p.Phe7Cys | |
| NM_001143.2:c.20T>G MANE Select | NP_001134.1:p.Phe7Cys |