Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127210176T>C , CM000670.2:g.127210176T>C | GRCh38 |
| NC_000008.10:g.128222421T>C , CM000670.1:g.128222421T>C | GRCh37 |
| NC_000008.9:g.128291603T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108049.1:n.460-459A>G |