Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157115654T>C , CM000667.2:g.157115654T>C | GRCh38 |
| NC_000005.9:g.156542665T>C , CM000667.1:g.156542665T>C | GRCh37 |
| NC_000005.8:g.156475243T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-8692A>G | ENSP00000430328.2:n.-293-8692A>G | |
| ENST00000524219.1:c.-293-8692A>G | ENSP00000430328.1:n.-293-8692A>G |