Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128529854T>C , CM000670.2:g.128529854T>C | GRCh38 |
| NC_000008.10:g.129542100T>C , CM000670.1:g.129542100T>C | GRCh37 |
| NC_000008.9:g.129611282T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_121672.1:n.508+31216A>G |