Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763787A>G , CM000674.2:g.57763787A>G | GRCh38 |
| NC_000012.11:g.58157570A>G , CM000674.1:g.58157570A>G | GRCh37 |
| NC_000012.10:g.56443837A>G | NCBI36 |
| NG_007076.1:g.8407T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1318T>C | ENSP00000518840.1:p.Tyr440His | |
| ENST00000713545.1:c.*242T>C | ENSP00000518841.1:n.*242T>C | |
| ENST00000228606.9:c.1237T>C MANE Select | ENSP00000228606.4:p.Tyr413His | |
| ENST00000228606.8:c.1237T>C | ENSP00000228606.4:p.Tyr413His | |
| ENST00000547344.5:n.1376T>C | ||
| NM_000785.3:c.1237T>C | NP_000776.1:p.Tyr413His | |
| NM_000785.4:c.1237T>C MANE Select | NP_000776.1:p.Tyr413His |