Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763787A>T , CM000674.2:g.57763787A>T | GRCh38 |
| NC_000012.11:g.58157570A>T , CM000674.1:g.58157570A>T | GRCh37 |
| NC_000012.10:g.56443837A>T | NCBI36 |
| NG_007076.1:g.8407T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1318T>A | ENSP00000518840.1:p.Tyr440Asn | |
| ENST00000713545.1:c.*242T>A | ENSP00000518841.1:n.*242T>A | |
| ENST00000228606.9:c.1237T>A MANE Select | ENSP00000228606.4:p.Tyr413Asn | |
| ENST00000228606.8:c.1237T>A | ENSP00000228606.4:p.Tyr413Asn | |
| ENST00000547344.5:n.1376T>A | ||
| NM_000785.3:c.1237T>A | NP_000776.1:p.Tyr413Asn | |
| NM_000785.4:c.1237T>A MANE Select | NP_000776.1:p.Tyr413Asn |