Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423099C>A , CM000669.2:g.94423099C>A | GRCh38 |
| NC_000007.13:g.94052411C>A , CM000669.1:g.94052411C>A | GRCh37 |
| NC_000007.12:g.93890347C>A | NCBI36 |
| NG_007405.1:g.33539C>A , LRG_2:g.33539C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2546C>A MANE Select | ENSP00000297268.6:p.Ser849Tyr | |
| ENST00000297268.10:c.2546C>A | ENSP00000297268.6:p.Ser849Tyr | |
| ENST00000481570.5:n.629C>A | ||
| ENST00000497316.5:n.943C>A | ||
| ENST00000620463.1:c.2540C>A | ENSP00000477719.1:p.Ser847Tyr | |
| NM_000089.3:c.2546C>A , LRG_2t1:c.2546C>A | NP_000080.2:p.Ser849Tyr | |
| NM_000089.4:c.2546C>A MANE Select | NP_000080.2:p.Ser849Tyr |