Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79111483T>C , CM000667.2:g.79111483T>C | GRCh38 |
| NC_000005.9:g.78407306T>C , CM000667.1:g.78407306T>C | GRCh37 |
| NC_000005.8:g.78443062T>C | NCBI36 |
| NG_029156.1:g.4703T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520388.5:n.492-7205A>G |