Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680547A>C , CM000663.2:g.186680547A>C | GRCh38 |
| NC_000001.10:g.186649679A>C , CM000663.1:g.186649679A>C | GRCh37 |
| NC_000001.9:g.184916302A>C | NCBI36 |
| NG_028206.2:g.4881T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680451.1:c.-113-144T>G | ENSP00000506242.1:n.-113-144T>G |