Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586518G>A , CM000673.2:g.67586518G>A | GRCh38 |
| NC_000011.9:g.67353989G>A , CM000673.1:g.67353989G>A | GRCh37 |
| NC_000011.8:g.67110565G>A | NCBI36 |
| NG_012075.1:g.7924G>A , LRG_723:g.7924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.466G>A | ENSP00000381604.1:p.Ala156Thr | |
| ENST00000398606.10:c.574G>A MANE Select | ENSP00000381607.3:p.Ala192Thr | |
| ENST00000398603.5:c.466G>A | ENSP00000381604.1:p.Ala156Thr | |
| ENST00000398606.7:c.574G>A | ENSP00000381607.3:p.Ala192Thr | |
| ENST00000467591.1:n.685G>A | ||
| ENST00000494593.1:n.1546G>A | ||
| ENST00000498765.5:c.637G>A | ||
| NM_000852.3:c.574G>A , LRG_723t1:c.574G>A | NP_000843.1:p.Ala192Thr | |
| NM_000852.4:c.574G>A MANE Select | NP_000843.1:p.Ala192Thr |