Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958085G>C , CM000677.2:g.42958085G>C | GRCh38 |
| NC_000015.9:g.43250283G>C , CM000677.1:g.43250283G>C | GRCh37 |
| NC_000015.8:g.41037575G>C | NCBI36 |
| NG_012182.1:g.153004C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4763C>G MANE Select | ENSP00000290650.4:p.Pro1588Arg | |
| ENST00000290650.8:c.4763C>G | ENSP00000290650.4:p.Pro1588Arg | |
| NM_174916.2:c.4763C>G | NP_777576.1:p.Pro1588Arg | |
| NM_174916.3:c.4763C>G MANE Select | NP_777576.1:p.Pro1588Arg |