Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659430G>A , CM000683.2:g.31659430G>A | GRCh38 |
| NC_000021.8:g.33031743G>A , CM000683.1:g.33031743G>A | GRCh37 |
| NC_000021.7:g.31953614G>A | NCBI36 |
| NG_008689.1:g.4809G>A , LRG_652:g.4809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430363.2:n.91C>T | ||
| XR_937662.1:n.91C>T | ||
| XR_002958653.1:n.55C>T | ||
| XR_430363.3:n.126C>T |