dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58500365G>A , CM000670.2:g.58500365G>A | GRCh38 |
| NC_000008.10:g.59412924G>A , CM000670.1:g.59412924G>A | GRCh37 |
| NC_000008.9:g.59575478G>A | NCBI36 |
| NG_007969.1:g.4798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011517476.1:c.-23-244C>T | XP_011515778.1:n.-23-244C>T |