Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160037458A= , CM000663.2:g.160037458A= | GRCh38 |
| NC_000001.10:g.160007248A= , CM000663.1:g.160007248A= | GRCh37 |
| NC_000001.9:g.158273872A= | NCBI36 |
| NG_016411.1:g.37714T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+4376T= | ||
| ENST00000637644.1:c.487+4588T= | ENSP00000490282.1:n.487+4588T= | |
| ENST00000639408.1:c.587+3044T= | ENSP00000491635.1:n.587+3044T= | |
| ENST00000640914.1:c.224+3044T= |