Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227158G= , CM000673.2:g.5227158G= | GRCh38 |
| NC_000011.9:g.5248388G= , CM000673.1:g.5248388G= | GRCh37 |
| NC_000011.8:g.5204964G= | NCBI36 |
| NG_000007.3:g.70458C= | |
| NG_059281.1:g.4914C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-119C= | ENSP00000369671.2:n.-18-119C= |
| ENST00000647020.1:c.-137C= | ENSP00000494175.1:n.-137C= |