Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658558G>T , CM000682.2:g.10658558G>T | GRCh38 |
| NC_000020.10:g.10639206G>T , CM000682.1:g.10639206G>T | GRCh37 |
| NC_000020.9:g.10587206G>T | NCBI36 |
| NG_007496.1:g.20489C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.604C>A MANE Select | ENSP00000254958.4:p.Pro202Thr | |
| ENST00000254958.9:c.604C>A | ENSP00000254958.4:p.Pro202Thr | |
| ENST00000423891.6:n.470C>A | ||
| NM_000214.2:c.604C>A | NP_000205.1:p.Pro202Thr | |
| NM_000214.3:c.604C>A MANE Select | NP_000205.1:p.Pro202Thr |