Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321900C>A , CM000666.2:g.99321900C>A | GRCh38 |
| NC_000004.11:g.100243057C>A , CM000666.1:g.100243057C>A | GRCh37 |
| NC_000004.10:g.100462080C>A | NCBI36 |
| NG_011435.1:g.4516G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-3014G>T | ENSP00000491622.1:n.19-3014G>T |