dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31058212C>A , CM000668.2:g.31058212C>A | GRCh38 |
| NC_000006.11:g.31025989C>A , CM000668.1:g.31025989C>A | GRCh37 |
| NC_000006.10:g.31133968C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646461.3:c.877-1196C>A | ENSP00000507162.2:n.877-1196C>A | |
| ENST00000426185.1:n.1512-1196C>A | ||
| ENST00000565192.1:n.1193-1196C>A | ||
| ENST00000566475.1:n.300-1196C>A | ||
| NR_003948.2:n.1701-1196C>A | ||
| NR_145427.1:n.1193-1196C>A | ||
| NR_003948.3:n.1702-1196C>A | ||
| NR_145427.2:n.1194-1196C>A |