Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659426T>G , CM000683.2:g.31659426T>G | GRCh38 |
| NC_000021.8:g.33031739T>G , CM000683.1:g.33031739T>G | GRCh37 |
| NC_000021.7:g.31953610T>G | NCBI36 |
| NG_008689.1:g.4805T>G , LRG_652:g.4805T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430363.2:n.95A>C | ||
| XR_937662.1:n.95A>C | ||
| XR_002958653.1:n.59A>C | ||
| XR_430363.3:n.130A>C |