Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321835A>G , CM000666.2:g.99321835A>G | GRCh38 |
| NC_000004.11:g.100242992A>G , CM000666.1:g.100242992A>G | GRCh37 |
| NC_000004.10:g.100462015A>G | NCBI36 |
| NG_011435.1:g.4581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-2949T>C | ENSP00000491622.1:n.19-2949T>C |