Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129601247G>A , CM000670.2:g.129601247G>A | GRCh38 |
| NC_000008.10:g.130613493G>A , CM000670.1:g.130613493G>A | GRCh37 |
| NC_000008.9:g.130682675G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.312+78681C>T |