Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.35981434A>C , CM000666.2:g.35981434A>C | GRCh38 |
| NC_000004.11:g.35983056A>C , CM000666.1:g.35983056A>C | GRCh37 |
| NC_000004.10:g.35659451A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503225.5:n.1607+3796T>G | ||
| XR_925192.1:n.1515T>G |