Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071538C>A , CM000667.2:g.111071538C>A | GRCh38 |
| NC_000005.9:g.110407236C>A , CM000667.1:g.110407236C>A | GRCh37 |
| NC_000005.8:g.110435135C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.34+21C>A | ENSP00000399099.2:n.34+21C>A | |
| NR_045089.1:n.1438+21C>A | ||
| NR_045089.2:n.1456+21C>A |