Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743236C= , CM000685.2:g.153743236C= | GRCh38 |
| NC_000023.10:g.153008690C= , CM000685.1:g.153008690C= | GRCh37 |
| NC_000023.9:g.152661884C= | NCBI36 |
| NG_009022.2:g.23369C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1881C= MANE Select | ENSP00000218104.3:p.Leu627= | |
| ENST00000218104.5:c.1881C= | ENSP00000218104.3:p.Leu627= | |
| NM_000033.3:c.1881C= | NP_000024.2:p.Leu627= | |
| XR_938507.1:n.2353C= | ||
| XR_938507.2:n.2353C= | ||
| NM_000033.4:c.1881C= MANE Select | NP_000024.2:p.Leu627= |