Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644874A>C , CM000682.2:g.10644874A>C | GRCh38 |
| NC_000020.10:g.10625522A>C , CM000682.1:g.10625522A>C | GRCh37 |
| NC_000020.9:g.10573522A>C | NCBI36 |
| NG_007496.1:g.34173T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2333T>G MANE Select | ENSP00000254958.4:p.Ile778Ser | |
| ENST00000617965.2:n.2922T>G | ||
| ENST00000254958.9:c.2333T>G | ENSP00000254958.4:p.Ile778Ser | |
| ENST00000423891.6:n.2199T>G | ||
| ENST00000488480.2:n.730T>G | ||
| NM_000214.2:c.2333T>G | NP_000205.1:p.Ile778Ser | |
| NM_000214.3:c.2333T>G MANE Select | NP_000205.1:p.Ile778Ser |