Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179793637A>C , CM000667.2:g.179793637A>C | GRCh38 |
| NC_000005.9:g.179220638A>C , CM000667.1:g.179220638A>C | GRCh37 |
| NC_000005.8:g.179153244A>C | NCBI36 |
| NG_028161.1:g.4653A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000503050.5:n.3685A>C |