Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.186079872G>T , CM000664.2:g.186079872G>T | GRCh38 |
| NC_000002.11:g.186944599G>T , CM000664.1:g.186944599G>T | GRCh37 |
| NC_000002.10:g.186652844G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110218.1:n.172+1458C>A |