Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786128C>A , CM000681.2:g.18786128C>A | GRCh38 |
| NC_000019.9:g.18896938C>A , CM000681.1:g.18896938C>A | GRCh37 |
| NC_000019.8:g.18757938C>A | NCBI36 |
| NG_007070.1:g.10177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1326G>T MANE Select | ENSP00000222271.2:p.Gln442His | |
| ENST00000222271.6:c.1326G>T | ENSP00000222271.2:p.Gln442His | |
| ENST00000425807.1:c.1167G>T | ENSP00000403792.1:p.Gln389His | |
| ENST00000542601.6:c.1227G>T | ENSP00000439156.2:p.Gln409His | |
| ENST00000612179.1:n.576G>T | ||
| NM_000095.2:c.1326G>T | NP_000086.2:p.Gln442His | |
| NM_000095.3:c.1326G>T MANE Select | NP_000086.2:p.Gln442His |