Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99322775T>G , CM000666.2:g.99322775T>G | GRCh38 |
| NC_000004.11:g.100243932T>G , CM000666.1:g.100243932T>G | GRCh37 |
| NC_000004.10:g.100462955T>G | NCBI36 |
| NG_011435.1:g.3641A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000639454.1:c.19-3889A>C | ENSP00000491622.1:n.19-3889A>C |