Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157114649C>T , CM000667.2:g.157114649C>T | GRCh38 |
| NC_000005.9:g.156541660C>T , CM000667.1:g.156541660C>T | GRCh37 |
| NC_000005.8:g.156474238C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-7687G>A | ENSP00000430328.2:n.-293-7687G>A | |
| ENST00000524219.1:c.-293-7687G>A | ENSP00000430328.1:n.-293-7687G>A |