Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30045906C>T , CM000676.2:g.30045906C>T | GRCh38 |
| NC_000014.8:g.30515112C>T , CM000676.1:g.30515112C>T | GRCh37 |
| NC_000014.7:g.29584863C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549503.1:c.33+1804G>A | ENSP00000446866.1:n.33+1804G>A |