Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.118365788A>T , CM000667.2:g.118365788A>T | GRCh38 |
| NC_000005.9:g.117701483A>T , CM000667.1:g.117701483A>T | GRCh37 |
| NC_000005.8:g.117729382A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104610.1:n.2658-14281T>A |