Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313830G= , CM000672.2:g.30313830G= | GRCh38 |
| NC_000010.10:g.30602759G= , CM000672.1:g.30602759G= | GRCh37 |
| NC_000010.9:g.30642765G= | NCBI36 |
| NG_028096.1:g.40509C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1528C= MANE Select | ENSP00000263063.3:p.Gln510= | |
| ENST00000263063.8:c.1528C= | ENSP00000263063.3:p.Gln510= | |
| ENST00000488290.5:n.3283C= | ||
| NM_018109.3:c.1528C= | NP_060579.3:p.Gln510= | |
| NM_018109.4:c.1528C= MANE Select | NP_060579.3:p.Gln510= |