Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.18062268A>C , CM000664.2:g.18062268A>C | GRCh38 |
| NC_000002.11:g.18243534A>C , CM000664.1:g.18243534A>C | GRCh37 |
| NC_000002.10:g.18107015A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465292.5:n.306-108122A>C |