Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11358685C= , CM000678.2:g.11358685C= | GRCh38 |
| NC_000016.9:g.11452542C= , CM000678.1:g.11452542C= | GRCh37 |
| NC_000016.8:g.11360043C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648619.1:c.295+12919C= | ENSP00000497643.1:n.295+12919C= |
| ENST00000649869.1:n.153-21137C= | |
| XR_933070.1:n.734-21137C= | |
| XR_933070.3:n.877-21137C= | |
| XR_933072.1:n.688+3005C= | |
| XR_933072.2:n.1287+3005C= | |
| XR_933073.1:n.59-21137C= | |
| XR_933073.2:n.843-21137C= |