Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62454337A>G , CM000663.2:g.62454337A>G | GRCh38 |
| NC_000001.10:g.62920008A>G , CM000663.1:g.62920008A>G | GRCh37 |
| NC_000001.9:g.62692596A>G | NCBI36 |
| NG_033073.1:g.239032T>C | |
| NG_033073.2:g.239032T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000634495.2:n.3639T>C |