Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19648580C>G , CM000674.2:g.19648580C>G | GRCh38 |
| NC_000012.11:g.19801514C>G , CM000674.1:g.19801514C>G | GRCh37 |
| NC_000012.10:g.19692781C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-72053C>G | ENSP00000445587.1:n.339-72053C>G | |
| XR_242921.2:n.253-1816C>G | ||
| XR_931408.1:n.77-1816C>G | ||
| XR_001749034.2:n.472-1816C>G | ||
| XR_001749035.1:n.526-1816C>G | ||
| XR_001749036.1:n.526-1118C>G | ||
| XR_001749037.1:n.276-1816C>G | ||
| XR_002957408.1:n.134-1816C>G |