Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270227C>T , CM000664.2:g.218270227C>T | GRCh38 |
| NC_000002.11:g.219134950C>T , CM000664.1:g.219134950C>T | GRCh37 |
| NC_000002.10:g.218843194C>T | NCBI36 |
| NG_017060.1:g.4836C>T | |
| NG_033036.1:g.4944G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000248450.8:c.-141G>A (AAMP) | ENSP00000248450.4:n.-141G>A |
| ENST00000691799.1:n.70+507C>T (PNKD) |