dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30125002T>A , CM000670.2:g.30125002T>A | GRCh38 |
| NC_000008.10:g.29982518T>A , CM000670.1:g.29982518T>A | GRCh37 |
| NC_000008.9:g.30102060T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442880.6:c.280-7373T>A | ENSP00000412803.2:n.280-7373T>A | |
| ENST00000520682.5:c.280-6974T>A | ENSP00000429656.1:n.280-6974T>A | |
| ENST00000520739.5:c.279+20516T>A | ENSP00000429398.1:n.279+20516T>A | |
| ENST00000523116.5:c.280-12270T>A | ENSP00000428281.1:n.280-12270T>A | |
| NM_001128208.1:c.280-12270T>A | NP_001121680.1:n.280-12270T>A | |
| NM_001128208.2:c.280-12270T>A | NP_001121680.1:n.280-12270T>A |