Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132350572T>G , CM000667.2:g.132350572T>G | GRCh38 |
| NC_000005.9:g.131686265T>G , CM000667.1:g.131686265T>G | GRCh37 |
| NC_000005.8:g.131714164T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.418-615A>C |