Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756103T>C , CM000686.2:g.20756103T>C | GRCh38 |
| NC_000024.9:g.22917989T>C , CM000686.1:g.22917989T>C | GRCh37 |
| NC_000024.8:g.21327377T>C | NCBI36 |
| NG_032924.1:g.5036T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001039567.2:c.-61T>C | NP_001034656.1:n.-61T>C |