Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227099T>G , CM000673.2:g.5227099T>G | GRCh38 |
| NC_000011.9:g.5248329T>G , CM000673.1:g.5248329T>G | GRCh37 |
| NC_000011.8:g.5204905T>G | NCBI36 |
| NG_000007.3:g.70517A>C | |
| NG_059281.1:g.4973A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-60A>C | ENSP00000369671.2:n.-18-60A>C |
| ENST00000647020.1:c.-78A>C | ENSP00000494175.1:n.-78A>C |