Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985704A>C , CM000676.2:g.75985704A>C | GRCh38 |
| NC_000014.8:g.76452047A>C , CM000676.1:g.76452047A>C | GRCh37 |
| NC_000014.7:g.75521800A>C | NCBI36 |
| NG_011715.1:g.1046T>G , LRG_399:g.1046T>G | |
| NG_031957.1:g.4952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555677.5:n.90-3181A>C |