Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097009A>G , CM000682.2:g.6097009A>G | GRCh38 |
| NC_000020.10:g.6077656A>G , CM000682.1:g.6077656A>G | GRCh37 |
| NC_000020.9:g.6025656A>G | NCBI36 |
| NG_016213.1:g.31536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.982T>C | ENSP00000514127.1:p.Ser328Pro | |
| ENST00000699096.1:n.1444T>C | ||
| ENST00000699097.1:n.152T>C | ||
| ENST00000217289.9:c.982T>C MANE Select | ENSP00000217289.4:p.Ser328Pro | |
| ENST00000217289.8:c.982T>C | ENSP00000217289.4:p.Ser328Pro | |
| ENST00000536936.1:c.211T>C | ENSP00000441063.1:p.Ser71Pro | |
| NM_017671.4:c.982T>C | NP_060141.3:p.Ser328Pro | |
| XM_024451935.1:c.982T>C | XP_024307703.1:p.Ser328Pro | |
| NM_017671.5:c.982T>C MANE Select | NP_060141.3:p.Ser328Pro |