Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583783C>T , CM000679.2:g.41583783C>T | GRCh38 |
| NC_000017.10:g.39740035C>T , CM000679.1:g.39740035C>T | GRCh37 |
| NC_000017.9:g.36993561C>T | NCBI36 |
| NG_008624.1:g.8113G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.904G>A MANE Select | ENSP00000167586.6:p.Ala302Thr | |
| ENST00000167586.6:c.904G>A | ENSP00000167586.6:p.Ala302Thr | |
| ENST00000476662.1:n.354G>A | ||
| NM_000526.4:c.904G>A | NP_000517.2:p.Ala302Thr | |
| NM_000526.5:c.904G>A MANE Select | NP_000517.3:p.Ala302Thr |