Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217013486T>G , CM000664.2:g.217013486T>G | GRCh38 |
| NC_000002.11:g.217878209T>G , CM000664.1:g.217878209T>G | GRCh37 |
| NC_000002.10:g.217586454T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001739169.1:n.11844+19468T>G | |
| XR_001739170.2:n.8480+19468T>G | |
| XR_001739171.2:n.8347+19468T>G | |
| XR_923881.1:n.299+19468T>G | |
| XR_923883.1:n.294+19468T>G | |
| XR_923885.1:n.862+19468T>G | |
| XR_923886.1:n.358+12381T>G | |
| XR_923887.1:n.299+19468T>G |