Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726016G>C , CM000685.2:g.153726016G>C | GRCh38 |
| NC_000023.10:g.152991471G>C , CM000685.1:g.152991471G>C | GRCh37 |
| NC_000023.9:g.152644665G>C | NCBI36 |
| NG_009022.2:g.6149G>C | |
| NG_023231.1:g.3731C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.750G>C MANE Select | ENSP00000218104.3:p.Val250= | |
| ENST00000218104.5:c.750G>C | ENSP00000218104.3:p.Val250= | |
| ENST00000370129.4:c.195G>C | ENSP00000359147.3:p.Val65= | |
| NM_000033.3:c.750G>C | NP_000024.2:p.Val250= | |
| XR_938507.1:n.1166G>C | ||
| XR_938507.2:n.1166G>C | ||
| NM_000033.4:c.750G>C MANE Select | NP_000024.2:p.Val250= |