Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725844C>G , CM000685.2:g.153725844C>G | GRCh38 |
| NC_000023.10:g.152991299C>G , CM000685.1:g.152991299C>G | GRCh37 |
| NC_000023.9:g.152644493C>G | NCBI36 |
| NG_009022.2:g.5977C>G | |
| NG_023231.1:g.3903G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.578C>G MANE Select | NP_000024.2:p.Pro193Arg |
| ENST00000218104.6:c.578C>G MANE Select | ENSP00000218104.3:p.Pro193Arg |
| NM_000033.3:c.578C>G | NP_000024.2:p.Pro193Arg |
| ENST00000218104.5:c.578C>G | ENSP00000218104.3:p.Pro193Arg |
| ENST00000370129.4:c.23C>G | ENSP00000359147.3:p.Pro8Arg |
| XR_938507.1:n.994C>G | |
| XR_938507.2:n.994C>G |