Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134026646G>C , CM000666.2:g.134026646G>C | GRCh38 |
| NC_000004.11:g.134947801G>C , CM000666.1:g.134947801G>C | GRCh37 |
| NC_000004.10:g.135167251G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741133.1:n.1821-15956C>G | ||
| XR_001741134.1:n.1821-15956C>G | ||
| XR_001741135.1:n.1821-15956C>G | ||
| XR_001741136.1:n.1821-15956C>G | ||
| XR_001741139.1:n.1653-15956C>G |