Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45676237T>A , CM000677.2:g.45676237T>A | GRCh38 |
| NC_000015.9:g.45968435T>A , CM000677.1:g.45968435T>A | GRCh37 |
| NC_000015.8:g.43755727T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021199.4:c.791T>A MANE Select | NP_067022.1:p.Ile264Asn |
| ENST00000260324.12:c.791T>A MANE Select | ENSP00000260324.7:p.Ile264Asn |
| NM_001271213.1:c.791T>A | NP_001258142.1:p.Ile264Asn |
| NM_001271213.2:c.791T>A | NP_001258142.1:p.Ile264Asn |
| NM_021199.3:c.791T>A | NP_067022.1:p.Ile264Asn |
| ENST00000260324.11:c.791T>A | ENSP00000260324.7:p.Ile264Asn |
| ENST00000564080.1:c.791T>A | ENSP00000455047.1:p.Ile264Asn |
| ENST00000568606.5:c.791T>A | ENSP00000456019.1:p.Ile264Asn |
| XR_932191.1:n.313-992A>T |