Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196883651T>G , CM000663.2:g.196883651T>G | GRCh38 |
| NC_000001.10:g.196852781T>G , CM000663.1:g.196852781T>G | GRCh37 |
| NC_000001.9:g.195119404T>G | NCBI36 |
| NG_028159.1:g.638T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000367421.4:c.58+63749T>G | ENSP00000356391.3:n.58+63749T>G |
| ENST00000608469.5:c.43+25243T>G | ENSP00000477162.1:n.43+25243T>G |
| ENST00000649395.1:n.427-955T>G |