dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119041104C>G , CM000670.2:g.119041104C>G | GRCh38 |
| NC_000008.10:g.120053343C>G , CM000670.1:g.120053343C>G | GRCh37 |
| NC_000008.9:g.120122524C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521788.1:n.235+31551C>G | ||
| XM_005250756.2:c.-59-48576C>G | XP_005250813.1:n.-59-48576C>G | |
| XM_011516795.1:c.-60+2954C>G | XP_011515097.1:n.-60+2954C>G | |
| NM_001324095.1:c.-60+2954C>G | NP_001311024.1:n.-60+2954C>G | |
| XM_005250756.3:c.-59-48576C>G | XP_005250813.1:n.-59-48576C>G | |
| NM_001324095.2:c.-60+2954C>G | NP_001311024.1:n.-60+2954C>G |