Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47289730T>A , CM000679.2:g.47289730T>A | GRCh38 |
| NC_000017.10:g.45367096T>A , CM000679.1:g.45367096T>A | GRCh37 |
| NC_000017.9:g.42722095T>A | NCBI36 |
| NG_008332.2:g.40889T>A , LRG_481:g.40889T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.989T>A MANE Select | NP_000203.2:p.Ile330Asn |
| ENST00000559488.7:c.989T>A MANE Select | ENSP00000452786.2:p.Ile330Asn |
| NM_000212.2:c.989T>A , LRG_481t1:c.989T>A | NP_000203.2:p.Ile330Asn |
| ENST00000559488.5:c.989T>A | ENSP00000452786.1:p.Ile330Asn |
| ENST00000560629.1:c.954T>A | |
| ENST00000571680.1:c.989T>A | ENSP00000461626.1:p.Ile330Asn |
| ENST00000696963.1:c.989T>A | ENSP00000513002.1:p.Ile330Asn |