Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160037464G= , CM000663.2:g.160037464G= | GRCh38 |
| NC_000001.10:g.160007254G= , CM000663.1:g.160007254G= | GRCh37 |
| NC_000001.9:g.158273878G= | NCBI36 |
| NG_016411.1:g.37708C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+4370C= | ||
| ENST00000637644.1:c.487+4582C= | ENSP00000490282.1:n.487+4582C= | |
| ENST00000639408.1:c.587+3038C= | ENSP00000491635.1:n.587+3038C= | |
| ENST00000640914.1:c.224+3038C= |