Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659394T>C , CM000683.2:g.31659394T>C | GRCh38 |
| NC_000021.8:g.33031707T>C , CM000683.1:g.33031707T>C | GRCh37 |
| NC_000021.7:g.31953578T>C | NCBI36 |
| NG_008689.1:g.4773T>C , LRG_652:g.4773T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430363.2:n.124+3A>G | ||
| XR_937662.1:n.124+3A>G | ||
| XR_002958653.1:n.88+3A>G | ||
| XR_430363.3:n.159+3A>G |