Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43067969A>T , CM000677.2:g.43067969A>T | GRCh38 |
| NC_000015.9:g.43360167A>T , CM000677.1:g.43360167A>T | GRCh37 |
| NC_000015.8:g.41147459A>T | NCBI36 |
| NG_012182.1:g.43120T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.727T>A MANE Select | ENSP00000290650.4:p.Tyr243Asn | |
| ENST00000290650.8:c.727T>A | ENSP00000290650.4:p.Tyr243Asn | |
| ENST00000546274.6:c.727T>A | ENSP00000477932.1:p.Tyr243Asn | |
| ENST00000563239.1:c.*202+2930T>A | ENSP00000456502.1:n.*202+2930T>A | |
| NM_174916.2:c.727T>A | NP_777576.1:p.Tyr243Asn | |
| NM_174916.3:c.727T>A MANE Select | NP_777576.1:p.Tyr243Asn |