Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893196C>G , CM000664.2:g.218893196C>G | GRCh38 |
| NC_000002.11:g.219757918C>G , CM000664.1:g.219757918C>G | GRCh37 |
| NC_000002.10:g.219466162C>G | NCBI36 |
| NG_012179.1:g.17664C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1179C>G MANE Select | ENSP00000258411.3:p.His393Gln | |
| ENST00000258411.7:c.1179C>G | ENSP00000258411.3:p.His393Gln | |
| NM_025216.2:c.1179C>G | NP_079492.2:p.His393Gln | |
| XM_011511928.1:c.1128C>G | XP_011510230.1:p.His376Gln | |
| XM_011511929.1:c.1083C>G | XP_011510231.1:p.His361Gln | |
| XM_011511930.1:c.799C>G | XP_011510232.1:p.Leu267Val | |
| XM_011511929.2:c.1083C>G | XP_011510231.1:p.His361Gln | |
| NM_025216.3:c.1179C>G MANE Select | NP_079492.2:p.His393Gln |