Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001989C>T , CM000663.2:g.94001989C>T | GRCh38 |
| NC_000001.10:g.94467545C>T , CM000663.1:g.94467545C>T | GRCh37 |
| NC_000001.9:g.94240133C>T | NCBI36 |
| NG_009073.1:g.124161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6151G>A MANE Select | ENSP00000359245.3:p.Ala2051Thr | |
| ENST00000370225.3:c.6151G>A | ENSP00000359245.3:p.Ala2051Thr | |
| ENST00000465352.1:n.567G>A | ||
| ENST00000536513.5:c.2527G>A | ENSP00000439707.2:p.Ala843Thr | |
| NM_000350.2:c.6151G>A | NP_000341.2:p.Ala2051Thr | |
| NM_000350.3:c.6151G>A MANE Select | NP_000341.2:p.Ala2051Thr |