Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.93784108T>C , CM000673.2:g.93784108T>C | GRCh38 |
| NC_000011.9:g.93517274T>C , CM000673.1:g.93517274T>C | GRCh37 |
| NC_000011.8:g.93156922T>C | NCBI36 |
| NG_028028.1:g.4870T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000527690.1:c.-224+196A>G | ENSP00000432852.1:n.-224+196A>G |
| ENST00000638767.1:c.676-520T>C | ENSP00000492220.1:n.676-520T>C |