Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60937196G>A , CM000664.2:g.60937196G>A | GRCh38 |
| NC_000002.11:g.61164331G>A , CM000664.1:g.61164331G>A | GRCh37 |
| NC_000002.10:g.61017835G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000414613.1:n.854C>T |