Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61944003T>C , CM000673.2:g.61944003T>C | GRCh38 |
| NC_000011.9:g.61711475T>C , CM000673.1:g.61711475T>C | GRCh37 |
| NC_000011.8:g.61468051T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011545197.1:c.29+1770A>G | XP_011543499.1:n.29+1770A>G |
| XM_011545197.2:c.29+1770A>G | XP_011543499.1:n.29+1770A>G |