Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149798599T>C , CM000664.2:g.149798599T>C | GRCh38 |
| NC_000002.11:g.150655113T>C , CM000664.1:g.150655113T>C | GRCh37 |
| NC_000002.10:g.150363359T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110240.1:n.536-49310T>C (MMADHC-DT) | ||
| NR_145421.1:n.1341+5583A>G (LINC01931) |