Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.118365873T>C , CM000667.2:g.118365873T>C | GRCh38 |
| NC_000005.9:g.117701568T>C , CM000667.1:g.117701568T>C | GRCh37 |
| NC_000005.8:g.117729467T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104610.1:n.2658-14366A>G |