Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.248874237G>C , CM000663.2:g.248874237G>C | GRCh38 |
| NC_000001.10:g.249168436G>C , CM000663.1:g.249168436G>C | GRCh37 |
| NC_000001.9:g.247135059G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011544160.1:c.-102+345G>C | XP_011542462.1:n.-102+345G>C |
| XM_011544161.1:c.-48+345G>C | XP_011542463.1:n.-48+345G>C |
| XM_011544161.3:c.-48+345G>C | XP_011542463.1:n.-48+345G>C |