Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78836524T>C , CM000675.2:g.78836524T>C | GRCh38 |
| NC_000013.10:g.79410659T>C , CM000675.1:g.79410659T>C | GRCh37 |
| NC_000013.9:g.78308660T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046869.2:n.111+3416A>G |