Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203866281T>C , CM000664.2:g.203866281T>C | GRCh38 |
| NC_000002.11:g.204731004T>C , CM000664.1:g.204731004T>C | GRCh37 |
| NC_000002.10:g.204439249T>C | NCBI36 |
| NG_011502.1:g.3496T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.48-1637T>C | ENSP00000512655.1:n.48-1637T>C |