Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519030T>G , CM000674.2:g.52519030T>G | GRCh38 |
| NC_000012.11:g.52912814T>G , CM000674.1:g.52912814T>G | GRCh37 |
| NC_000012.10:g.51199081T>G | NCBI36 |
| NG_008297.1:g.6430A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.686A>C MANE Select | ENSP00000252242.4:p.Gln229Pro | |
| ENST00000252242.8:c.686A>C | ENSP00000252242.4:p.Gln229Pro | |
| ENST00000549420.1:c.356A>C | ENSP00000447209.1:p.Gln119Pro | |
| ENST00000551013.1:n.214A>C | ||
| ENST00000551188.5:c.88A>C | ||
| ENST00000552629.5:n.784A>C | ||
| NM_000424.3:c.686A>C | NP_000415.2:p.Gln229Pro | |
| NM_000424.4:c.686A>C MANE Select | NP_000415.2:p.Gln229Pro |