Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813955A>C , CM000674.2:g.52813955A>C | GRCh38 |
| NC_000012.11:g.53207739A>C , CM000674.1:g.53207739A>C | GRCh37 |
| NC_000012.10:g.51494006A>C | NCBI36 |
| NG_007380.1:g.5597T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.104T>G MANE Select | ENSP00000448220.1:p.Met35Arg | |
| ENST00000548097.5:c.104T>G | ENSP00000449755.1:p.Met35Arg | |
| ENST00000551956.1:c.104T>G | ENSP00000448220.1:p.Met35Arg | |
| ENST00000552668.1:c.104T>G | ENSP00000447320.1:p.Met35Arg | |
| NM_002272.3:c.104T>G | NP_002263.3:p.Met35Arg | |
| NM_002272.4:c.104T>G MANE Select | NP_002263.3:p.Met35Arg |