Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153729248T>G , CM000685.2:g.153729248T>G | GRCh38 |
| NC_000023.10:g.152994703T>G , CM000685.1:g.152994703T>G | GRCh37 |
| NC_000023.9:g.152647897T>G | NCBI36 |
| NG_009022.2:g.9381T>G | |
| NG_023231.1:g.499A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.917T>G MANE Select | NP_000024.2:p.Leu306Arg |
| ENST00000218104.6:c.917T>G MANE Select | ENSP00000218104.3:p.Leu306Arg |
| NM_000033.3:c.917T>G | NP_000024.2:p.Leu306Arg |
| ENST00000218104.5:c.917T>G | ENSP00000218104.3:p.Leu306Arg |
| ENST00000370129.4:c.362T>G | ENSP00000359147.3:p.Leu121Arg |
| XR_938507.1:n.1333T>G | |
| XR_938507.2:n.1333T>G |