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