Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56955143T>G , CM000666.2:g.56955143T>G | GRCh38 |
| NC_000004.11:g.57821309T>G , CM000666.1:g.57821309T>G | GRCh37 |
| NC_000004.10:g.57516066T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000640168.2:c.899-11513T>G | ENSP00000490969.1:n.899-11513T>G |
| ENST00000640343.2:c.983-11513T>G | ENSP00000492813.1:n.983-11513T>G |