Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174616C>A , CM000674.2:g.21174616C>A | GRCh38 |
| NC_000012.11:g.21327550C>A , CM000674.1:g.21327550C>A | GRCh37 |
| NC_000012.10:g.21218817C>A | NCBI36 |
| NG_011745.1:g.48423C>A , LRG_1022:g.48423C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.266C>A MANE Select | ENSP00000256958.2:p.Ser89Tyr | |
| ENST00000256958.2:c.266C>A | ENSP00000256958.2:p.Ser89Tyr | |
| ENST00000543498.5:c.426-2160C>A | ||
| NM_006446.4:c.266C>A , LRG_1022t1:c.266C>A | NP_006437.3:p.Ser89Tyr | |
| NM_006446.5:c.266C>A MANE Select | NP_006437.3:p.Ser89Tyr |