Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232894C>G , CM000667.2:g.173232894C>G | GRCh38 |
| NC_000005.9:g.172659897C>G , CM000667.1:g.172659897C>G | GRCh37 |
| NC_000005.8:g.172592503C>G | NCBI36 |
| NG_013340.1:g.7419G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.650G>C MANE Select | ENSP00000327758.4:p.Arg217Thr | |
| ENST00000329198.4:c.650G>C | ENSP00000327758.4:p.Arg217Thr | |
| ENST00000424406.2:c.*603G>C | ENSP00000395378.2:n.*603G>C | |
| NM_001166175.1:c.*603G>C | NP_001159647.1:n.*603G>C | |
| NM_001166176.1:c.*449G>C | NP_001159648.1:n.*449G>C | |
| NM_004387.3:c.650G>C | NP_004378.1:p.Arg217Thr | |
| NM_004387.4:c.650G>C MANE Select | NP_004378.1:p.Arg217Thr | |
| NM_001166175.2:c.*603G>C | NP_001159647.1:n.*603G>C | |
| NM_001166176.2:c.*449G>C | NP_001159648.1:n.*449G>C |