dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24084217G>A , CM000675.2:g.24084217G>A | GRCh38 |
| NC_000013.10:g.24658356G>A , CM000675.1:g.24658356G>A | GRCh37 |
| NC_000013.9:g.23556356G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382141.4:c.-112+66516G>A | ENSP00000371576.4:n.-112+66516G>A | |
| ENST00000424834.6:c.-112+66516G>A | ENSP00000398560.2:n.-112+66516G>A | |
| NM_001286792.1:c.75+66516G>A | NP_001273721.1:n.75+66516G>A | |
| NM_001286792.2:c.75+66516G>A | NP_001273721.1:n.75+66516G>A |