Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375744T>G , CM000676.2:g.23375744T>G | GRCh38 |
| NC_000014.8:g.23844953T>G , CM000676.1:g.23844953T>G | GRCh37 |
| NC_000014.7:g.22914793T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.350T>G MANE Select | ENSP00000380417.2:p.Leu117Arg | |
| ENST00000329715.2:c.398T>G | ENSP00000328111.2:p.Leu133Arg | |
| ENST00000397242.2:c.350T>G | ENSP00000380417.2:p.Leu117Arg | |
| NM_022789.3:c.398T>G | NP_073626.1:p.Leu133Arg | |
| NM_172314.1:c.350T>G | NP_758525.1:p.Leu117Arg |