dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.21389038C>A , CM000686.2:g.21389038C>A | GRCh38 |
| NC_000024.9:g.23550924C>A , CM000686.1:g.23550924C>A | GRCh37 |
| NC_000024.8:g.21960312C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011531421.1:c.-2361-2682G>T | XP_011529723.1:n.-2361-2682G>T | |
| XM_011531422.1:c.-1816-2682G>T | XP_011529724.1:n.-1816-2682G>T | |
| XM_017030026.1:c.-2361-2682G>T | XP_016885515.1:n.-2361-2682G>T | |
| XM_017030027.1:c.-1816-2682G>T | XP_016885516.1:n.-1816-2682G>T | |
| NR_170372.1:n.204-2682G>T |