Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242479G>C , CM000684.2:g.20242479G>C | GRCh38 |
| NC_000022.10:g.20230002G>C , CM000684.1:g.20230002G>C | GRCh37 |
| NC_000022.9:g.18610002G>C | NCBI36 |
| NG_012176.1:g.30815C>G | |
| NG_012176.2:g.30815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.654C>G MANE Select | ENSP00000043402.7:p.His218Gln | |
| ENST00000043402.7:c.654C>G | ENSP00000043402.7:p.His218Gln | |
| ENST00000416372.5:c.713C>G | ||
| ENST00000425986.1:c.911C>G | ||
| NM_023004.5:c.654C>G | NP_075380.1:p.His218Gln | |
| NM_023004.6:c.654C>G MANE Select | NP_075380.1:p.His218Gln |