Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99356896T>G , CM000671.2:g.99356896T>G | GRCh38 |
| NC_000009.11:g.102119178T>G , CM000671.1:g.102119178T>G | GRCh37 |
| NC_000009.10:g.101158999T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102270.1:n.1971-1294A>C | ||
| NR_102271.1:n.1419-1294A>C |