Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73136421G>C , CM000676.2:g.73136421G>C | GRCh38 |
| NC_000014.8:g.73603129G>C , CM000676.1:g.73603129G>C | GRCh37 |
| NC_000014.7:g.72672882G>C | NCBI36 |
| NG_007386.2:g.4951G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557356.5:c.-163G>C | ENSP00000451498.1:n.-163G>C |