Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129601260C>T , CM000670.2:g.129601260C>T | GRCh38 |
| NC_000008.10:g.130613506C>T , CM000670.1:g.130613506C>T | GRCh37 |
| NC_000008.9:g.130682688C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.312+78668G>A |