Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736367C>G , CM000685.2:g.153736367C>G | GRCh38 |
| NC_000023.10:g.153001821C>G , CM000685.1:g.153001821C>G | GRCh37 |
| NC_000023.9:g.152655015C>G | NCBI36 |
| NG_009022.2:g.16500C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1247C>G MANE Select | NP_000024.2:p.Thr416Arg |
| ENST00000218104.6:c.1247C>G MANE Select | ENSP00000218104.3:p.Thr416Arg |
| NM_000033.3:c.1247C>G | NP_000024.2:p.Thr416Arg |
| ENST00000218104.5:c.1247C>G | ENSP00000218104.3:p.Thr416Arg |
| ENST00000443684.2:n.250C>G | |
| XR_938507.1:n.1663C>G | |
| XR_938507.2:n.1663C>G |