Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868047G>C , CM000663.2:g.23868047G>C | GRCh38 |
| NC_000001.10:g.24194537G>C , CM000663.1:g.24194537G>C | GRCh37 |
| NC_000001.9:g.24067124G>C | NCBI36 |
| NG_013346.1:g.5323C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.240C>G MANE Select | ENSP00000363603.3:p.His80Gln | |
| ENST00000374479.3:c.240C>G | ENSP00000363603.3:p.His80Gln | |
| NM_000147.4:c.240C>G | NP_000138.2:p.His80Gln | |
| XM_005245821.1:c.-310C>G | XP_005245878.1:n.-310C>G | |
| XM_005245821.3:c.-310C>G | XP_005245878.1:n.-310C>G | |
| NM_000147.5:c.240C>G MANE Select | NP_000138.2:p.His80Gln | |
| NR_174379.1:n.244C>G | ||
| NR_174380.1:n.244C>G | ||
| NR_174381.1:n.244C>G | ||
| NR_174382.1:n.244C>G |