Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321852A>C , CM000666.2:g.99321852A>C | GRCh38 |
| NC_000004.11:g.100243009A>C , CM000666.1:g.100243009A>C | GRCh37 |
| NC_000004.10:g.100462032A>C | NCBI36 |
| NG_011435.1:g.4564T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000639454.1:c.19-2966T>G | ENSP00000491622.1:n.19-2966T>G |