Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658549C>G , CM000682.2:g.10658549C>G | GRCh38 |
| NC_000020.10:g.10639197C>G , CM000682.1:g.10639197C>G | GRCh37 |
| NC_000020.9:g.10587197C>G | NCBI36 |
| NG_007496.1:g.20498G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.613G>C MANE Select | ENSP00000254958.4:p.Asp205His | |
| ENST00000254958.9:c.613G>C | ENSP00000254958.4:p.Asp205His | |
| ENST00000423891.6:n.479G>C | ||
| NM_000214.2:c.613G>C | NP_000205.1:p.Asp205His | |
| NM_000214.3:c.613G>C MANE Select | NP_000205.1:p.Asp205His |