Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128118550G>A , CM000671.2:g.128118550G>A | GRCh38 |
| NC_000009.11:g.130880829G>A , CM000671.1:g.130880829G>A | GRCh37 |
| NC_000009.10:g.129920650G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033374.1:n.185C>T |