dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139185143G>A , CM000665.2:g.139185143G>A | GRCh38 |
| NC_000003.11:g.138903985G>A , CM000665.1:g.138903985G>A | GRCh37 |
| NC_000003.10:g.140386675G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495075.5:c.-72+4783G>A | ENSP00000418008.1:n.-72+4783G>A | |
| ENST00000495225.1:c.82+21933G>A | ENSP00000417104.1:n.82+21933G>A |