Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071044C>A , CM000667.2:g.111071044C>A | GRCh38 |
| NC_000005.9:g.110406742C>A , CM000667.1:g.110406742C>A | GRCh37 |
| NC_000005.8:g.110434641C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045089.1:n.965C>A | |
| NR_045089.2:n.983C>A | |
| ENST00000420978.6:c.-440C>A | ENSP00000399099.2:n.-440C>A |