dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63264568A>G , CM000682.2:g.63264568A>G | GRCh38 |
| NC_000020.10:g.61895920A>G , CM000682.1:g.61895920A>G | GRCh37 |
| NC_000020.9:g.61366365A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370307.6:c.-133+8014T>C | ENSP00000359330.2:n.-133+8014T>C |