Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44318290T>C , CM000672.2:g.44318290T>C | GRCh38 |
| NC_000010.10:g.44813738T>C , CM000672.1:g.44813738T>C | GRCh37 |
| NC_000010.9:g.44133744T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001747171.1:n.332-20393A>G | |
| XR_001747172.1:n.332-20393A>G | |
| XR_001747173.1:n.332-20393A>G | |
| XR_001747174.1:n.332-20393A>G | |
| XR_945912.1:n.311-20393A>G |