Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7690059A>C , CM000674.2:g.7690059A>C | GRCh38 |
| NC_000012.11:g.7842655A>C , CM000674.1:g.7842655A>C | GRCh37 |
| NC_000012.10:g.7733922A>C | NCBI36 |
| NG_028167.1:g.10706T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329913.4:c.914T>G MANE Select | ENSP00000331745.3:p.Leu305Arg | |
| ENST00000329913.3:c.914T>G | ENSP00000331745.3:p.Leu305Arg | |
| NM_020634.1:c.914T>G | NP_065685.1:p.Leu305Arg | |
| NM_020634.2:c.914T>G | NP_065685.1:p.Leu305Arg | |
| NM_020634.3:c.914T>G MANE Select | NP_065685.1:p.Leu305Arg |