Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985391G>A , CM000675.2:g.99985391G>A | GRCh38 |
| NC_000013.10:g.100637645G>A , CM000675.1:g.100637645G>A | GRCh37 |
| NC_000013.9:g.99435646G>A | NCBI36 |
| NG_007085.2:g.8327G>A | |
| NG_007085.3:g.8636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1308G>A MANE Select | ENSP00000365514.3:p.Thr436= | |
| ENST00000376335.7:c.1308G>A | ENSP00000365514.3:p.Thr436= | |
| ENST00000468291.1:n.282G>A | ||
| ENST00000477213.1:n.390G>A | ||
| ENST00000490085.5:n.354G>A | ||
| ENST00000620342.1:c.1305G>A | ENSP00000481510.1:p.Thr435= | |
| NM_007129.3:c.1308G>A | NP_009060.2:p.Thr436= | |
| XM_011521110.1:c.*61G>A | XP_011519412.1:n.*61G>A | |
| NM_007129.4:c.1308G>A | NP_009060.2:p.Thr436= | |
| NM_007129.5:c.1308G>A MANE Select | NP_009060.2:p.Thr436= |