Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1295069G>C , CM000667.2:g.1295069G>C | GRCh38 |
| NC_000005.9:g.1295184G>C , CM000667.1:g.1295184G>C | GRCh37 |
| NC_000005.8:g.1348184G>C | NCBI36 |
| NG_009265.1:g.4979C>G , LRG_343:g.4979C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522877.1:n.1C>G |