Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658543A>C , CM000682.2:g.10658543A>C | GRCh38 |
| NC_000020.10:g.10639191A>C , CM000682.1:g.10639191A>C | GRCh37 |
| NC_000020.9:g.10587191A>C | NCBI36 |
| NG_007496.1:g.20504T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.619T>G MANE Select | ENSP00000254958.4:p.Phe207Val | |
| ENST00000254958.9:c.619T>G | ENSP00000254958.4:p.Phe207Val | |
| ENST00000423891.6:n.485T>G | ||
| NM_000214.2:c.619T>G | NP_000205.1:p.Phe207Val | |
| NM_000214.3:c.619T>G MANE Select | NP_000205.1:p.Phe207Val |