Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19560382T>C , CM000686.2:g.19560382T>C | GRCh38 |
| NC_000024.9:g.21722268T>C , CM000686.1:g.21722268T>C | GRCh37 |
| NC_000024.8:g.20181656T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000650676.1:n.111+6600A>G | |
| ENST00000651484.1:n.71-2242A>G | |
| ENST00000693243.1:n.27-2242A>G | |
| XR_001756064.2:n.199-2242A>G | |
| XR_001756065.1:n.199-2242A>G | |
| XR_001756066.1:n.199-963A>G | |
| XR_938626.1:n.3173A>G | |
| XR_938626.2:n.3569A>G | |
| XR_938627.1:n.3173A>G | |
| XR_938627.2:n.3569A>G | |
| XR_938628.1:n.271-2242A>G | |
| XR_938628.3:n.199-2242A>G | |
| XR_938629.1:n.3173A>G |