Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.118365869T>C , CM000667.2:g.118365869T>C | GRCh38 |
| NC_000005.9:g.117701564T>C , CM000667.1:g.117701564T>C | GRCh37 |
| NC_000005.8:g.117729463T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104610.1:n.2658-14362A>G |