Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321892A>G , CM000666.2:g.99321892A>G | GRCh38 |
| NC_000004.11:g.100243049A>G , CM000666.1:g.100243049A>G | GRCh37 |
| NC_000004.10:g.100462072A>G | NCBI36 |
| NG_011435.1:g.4524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-3006T>C | ENSP00000491622.1:n.19-3006T>C |