dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47617366A>C , CM000664.2:g.47617366A>C | GRCh38 |
| NC_000002.11:g.47844505A>C , CM000664.1:g.47844505A>C | GRCh37 |
| NC_000002.10:g.47698009A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644092.1:c.*1242+9785A>C | ENSP00000496351.1:n.*1242+9785A>C | |
| ENST00000645339.1:c.2753-15436A>C | ENSP00000496441.1:n.2753-15436A>C | |
| ENST00000646415.1:c.*125+9785A>C | ENSP00000495543.1:n.*125+9785A>C | |
| XR_001738747.2:n.3004+9785A>C |