Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985365G>T , CM000675.2:g.99985365G>T | GRCh38 |
| NC_000013.10:g.100637619G>T , CM000675.1:g.100637619G>T | GRCh37 |
| NC_000013.9:g.99435620G>T | NCBI36 |
| NG_007085.2:g.8301G>T | |
| NG_007085.3:g.8610G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1282G>T MANE Select | ENSP00000365514.3:p.Ala428Ser | |
| ENST00000376335.7:c.1282G>T | ENSP00000365514.3:p.Ala428Ser | |
| ENST00000468291.1:n.256G>T | ||
| ENST00000477213.1:n.364G>T | ||
| ENST00000490085.5:n.328G>T | ||
| ENST00000620342.1:c.1279G>T | ENSP00000481510.1:p.Ala427Ser | |
| NM_007129.3:c.1282G>T | NP_009060.2:p.Ala428Ser | |
| XM_011521110.1:c.*35G>T | XP_011519412.1:n.*35G>T | |
| NM_007129.4:c.1282G>T | NP_009060.2:p.Ala428Ser | |
| NM_007129.5:c.1282G>T MANE Select | NP_009060.2:p.Ala428Ser |