Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37905144G>C , CM000669.2:g.37905144G>C | GRCh38 |
| NC_000007.13:g.37944746G>C , CM000669.1:g.37944746G>C | GRCh37 |
| NC_000007.12:g.37911271G>C | NCBI36 |
| NG_052980.1:g.16780C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000476620.1:c.-37-43696G>C | ENSP00000425858.1:n.-37-43696G>C |