Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736367C= , CM000685.2:g.153736367C= | GRCh38 |
| NC_000023.10:g.153001821C= , CM000685.1:g.153001821C= | GRCh37 |
| NC_000023.9:g.152655015C= | NCBI36 |
| NG_009022.2:g.16500C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1247C= MANE Select | ENSP00000218104.3:p.Thr416= | |
| ENST00000218104.5:c.1247C= | ENSP00000218104.3:p.Thr416= | |
| ENST00000443684.2:n.250C= | ||
| NM_000033.3:c.1247C= | NP_000024.2:p.Thr416= | |
| XR_938507.1:n.1663C= | ||
| XR_938507.2:n.1663C= | ||
| NM_000033.4:c.1247C= MANE Select | NP_000024.2:p.Thr416= |