dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186417181C>A , CM000666.2:g.186417181C>A | GRCh38 |
| NC_000004.11:g.187338335C>A , CM000666.1:g.187338335C>A | GRCh37 |
| NC_000004.10:g.187575329C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033900.1:n.214+83664G>T | ||
| XR_427648.2:n.1186-845G>T | ||
| XR_939587.1:n.1354-845G>T | ||
| XR_939588.1:n.1074-845G>T | ||
| NR_033901.2:n.1573-845G>T |