Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154699T>G , CM000668.2:g.3154699T>G | GRCh38 |
| NC_000006.11:g.3154933T>G , CM000668.1:g.3154933T>G | GRCh37 |
| NC_000006.10:g.3099932T>G | NCBI36 |
| NG_042223.1:g.7851A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.502A>C MANE Select | ENSP00000369703.2:p.Ser168Arg | |
| ENST00000679400.1:n.558A>C | ||
| ENST00000679907.1:n.890A>C | ||
| ENST00000680036.1:n.1284A>C | ||
| ENST00000680967.1:n.1592A>C | ||
| ENST00000333628.3:c.502A>C | ENSP00000369703.2:p.Ser168Arg | |
| ENST00000489942.1:n.697A>C | ||
| NM_001069.2:c.502A>C | NP_001060.1:p.Ser168Arg | |
| NM_001310315.1:c.247A>C | NP_001297244.1:p.Ser83Arg | |
| NM_001069.3:c.502A>C MANE Select | NP_001060.1:p.Ser168Arg | |
| NM_001310315.2:c.247A>C | NP_001297244.1:p.Ser83Arg |