Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.70474669T>A , CM000670.2:g.70474669T>A | GRCh38 |
| NC_000008.10:g.71386904T>A , CM000670.1:g.71386904T>A | GRCh37 |
| NC_000008.9:g.71549458T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110653.1:n.712+2824T>A |