Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232810A>C , CM000667.2:g.173232810A>C | GRCh38 |
| NC_000005.9:g.172659813A>C , CM000667.1:g.172659813A>C | GRCh37 |
| NC_000005.8:g.172592419A>C | NCBI36 |
| NG_013340.1:g.7503T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.734T>G MANE Select | ENSP00000327758.4:p.Leu245Arg | |
| ENST00000329198.4:c.734T>G | ENSP00000327758.4:p.Leu245Arg | |
| NM_001166175.1:c.*687T>G | NP_001159647.1:n.*687T>G | |
| NM_001166176.1:c.*533T>G | NP_001159648.1:n.*533T>G | |
| NM_004387.3:c.734T>G | NP_004378.1:p.Leu245Arg | |
| NM_004387.4:c.734T>G MANE Select | NP_004378.1:p.Leu245Arg | |
| NM_001166175.2:c.*687T>G | NP_001159647.1:n.*687T>G | |
| NM_001166176.2:c.*533T>G | NP_001159648.1:n.*533T>G |