Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649292G>T , CM000670.2:g.2649292G>T | GRCh38 |
| NC_000008.10:g.2506809G>T , CM000670.1:g.2506809G>T | GRCh37 |
| NC_000008.9:g.2494216G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125425.1:n.238+25438C>A |