Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826364G>C , CM000667.2:g.148826364G>C | GRCh38 |
| NC_000005.9:g.148205927G>C , CM000667.1:g.148205927G>C | GRCh37 |
| NC_000005.8:g.148186120G>C | NCBI36 |
| NG_016421.1:g.4772G>C | |
| NG_016421.2:g.4772G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000305988.5:c.-468G>C | ENSP00000305372.4:n.-468G>C |