Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54580152T>G , CM000667.2:g.54580152T>G | GRCh38 |
| NC_000005.9:g.53875982T>G , CM000667.1:g.53875982T>G | GRCh37 |
| NC_000005.8:g.53911739T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017008997.1:c.1622-26251T>G | XP_016864486.1:n.1622-26251T>G |
| XR_001741987.1:n.1816-26251T>G |