Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583266A>T , CM000679.2:g.41583266A>T | GRCh38 |
| NC_000017.10:g.39739518A>T , CM000679.1:g.39739518A>T | GRCh37 |
| NC_000017.9:g.36993044A>T | NCBI36 |
| NG_008624.1:g.8630T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.1243T>A MANE Select | NP_000517.3:p.Tyr415Asn |
| ENST00000167586.7:c.1243T>A MANE Select | ENSP00000167586.6:p.Tyr415Asn |
| NM_000526.4:c.1243T>A | NP_000517.2:p.Tyr415Asn |
| ENST00000167586.6:c.1243T>A | ENSP00000167586.6:p.Tyr415Asn |
| ENST00000441550.2:n.190T>A | |
| ENST00000476662.1:n.693T>A |