Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221578T>G , CM000671.2:g.99221578T>G | GRCh38 |
| NC_000009.11:g.101983860T>G , CM000671.1:g.101983860T>G | GRCh37 |
| NC_000009.10:g.101023681T>G | NCBI36 |
| NG_008928.1:g.5387A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.317A>C MANE Select | ENSP00000417764.1:p.Asp106Ala | |
| ENST00000238477.5:c.317A>C | ENSP00000432675.2:p.Asp106Ala | |
| ENST00000476832.1:c.317A>C | ENSP00000417764.1:p.Asp106Ala | |
| NM_033087.3:c.317A>C | NP_149078.1:p.Asp106Ala | |
| NR_024532.1:n.387A>C | ||
| NM_033087.4:c.317A>C MANE Select | NP_149078.1:p.Asp106Ala | |
| NR_024532.2:n.365A>C |