Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191803T>G , CM000670.2:g.23191803T>G | GRCh38 |
| NC_000008.10:g.23049316T>G , CM000670.1:g.23049316T>G | GRCh37 |
| NC_000008.9:g.23105261T>G | NCBI36 |
| NG_032107.1:g.38365A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1298A>C MANE Select | ENSP00000221132.3:p.Glu433Ala | |
| ENST00000221132.7:c.1298A>C | ENSP00000221132.3:p.Glu433Ala | |
| ENST00000613472.1:c.824A>C | ENSP00000480778.1:p.Glu275Ala | |
| NM_003844.3:c.1298A>C | NP_003835.3:p.Glu433Ala | |
| NM_003844.4:c.1298A>C MANE Select | NP_003835.3:p.Glu433Ala |