Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152528A>C , CM000677.2:g.80152528A>C | GRCh38 |
| NC_000015.9:g.80444870A>C , CM000677.1:g.80444870A>C | GRCh37 |
| NC_000015.8:g.78231925A>C | NCBI36 |
| NG_012833.1:g.4530A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-47A>C | ENSP00000453152.1:n.-47A>C |