Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200923009T= , CM000663.2:g.200923009T= | GRCh38 |
| NC_000001.10:g.200892137T= , CM000663.1:g.200892137T= | GRCh37 |
| NC_000001.9:g.199158760T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435735.2:n.569+248T= | ||
| ENST00000635940.1:n.71+248T= | ||
| ENST00000435735.1:n.360+245T= | ||
| XR_241169.2:n.676+248T= |