Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089282A>G , CM000681.2:g.11089282A>G | GRCh38 |
| NC_000019.9:g.11199958A>G , CM000681.1:g.11199958A>G | GRCh37 |
| NC_000019.8:g.11060958A>G | NCBI36 |
| NG_009060.1:g.4902A>G , LRG_274:g.4902A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.378T>C |