Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411009A>T , CM000677.2:g.48411009A>T | GRCh38 |
| NC_000015.9:g.48703206A>T , CM000677.1:g.48703206A>T | GRCh37 |
| NC_000015.8:g.46490498A>T | NCBI36 |
| NG_008805.2:g.239780T>A , LRG_778:g.239780T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.8597T>A MANE Select | NP_000129.3:p.Ile2866Asn |
| ENST00000316623.10:c.8597T>A MANE Select | ENSP00000325527.5:p.Ile2866Asn |
| NM_000138.4:c.8597T>A , LRG_778t1:c.8597T>A | NP_000129.3:p.Ile2866Asn |
| ENST00000316623.9:c.8597T>A | ENSP00000325527.5:p.Ile2866Asn |
| ENST00000559133.5:c.3966T>A | |
| ENST00000559133.6:c.*1405T>A | ENSP00000453958.2:n.*1405T>A |
| ENST00000682158.1:n.1978T>A | |
| ENST00000682170.1:n.2778T>A | |
| ENST00000682767.1:n.1894T>A |