Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169767711C>G , CM000664.2:g.169767711C>G | GRCh38 |
| NC_000002.11:g.170624221C>G , CM000664.1:g.170624221C>G | GRCh37 |
| NC_000002.10:g.170332467C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424937.1:n.1087+2G>C (PTCHD3P2) | ||
| ENST00000437875.1:c.830-5609C>G (KLHL23) | ENSP00000394732.1:n.830-5609C>G | |
| ENST00000448589.1:c.46-8730C>G (KLHL23) |