Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404971T>C , CM000681.2:g.8404971T>C | GRCh38 |
| NC_000019.9:g.8469855T>C , CM000681.1:g.8469855T>C | GRCh37 |
| NC_000019.8:g.8375855T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40035A>G | ENSP00000264073.6:n.-88+40035A>G |