Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45547503G>C , CM000682.2:g.45547503G>C | GRCh38 |
| NC_000020.10:g.44176142G>C , CM000682.1:g.44176142G>C | GRCh37 |
| NC_000020.9:g.43609556G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651288.1:c.-146C>G (EPPIN-WFDC6) | ENSP00000498632.1:n.-146C>G | |
| ENST00000409554.1:c.-146C>G (EPPIN) | ENSP00000387153.1:n.-146C>G |