Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65281041A>G , CM000676.2:g.65281041A>G | GRCh38 |
| NC_000014.8:g.65747759A>G , CM000676.1:g.65747759A>G | GRCh37 |
| NC_000014.7:g.64817512A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000554374.2:n.1476A>G | |
| XR_943945.1:n.272-33318T>C |