Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127705782A>G , CM000670.2:g.127705782A>G | GRCh38 |
| NC_000008.10:g.128718027A>G , CM000670.1:g.128718027A>G | GRCh37 |
| NC_000008.9:g.128787209A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_117102.1:n.366-2539T>C |