Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155875572G>C , CM000667.2:g.155875572G>C | GRCh38 |
| NC_000005.9:g.155302582G>C , CM000667.1:g.155302582G>C | GRCh37 |
| NC_000005.8:g.155235160G>C | NCBI36 |
| NG_008693.2:g.10229G>C , LRG_205:g.10229G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000517913.5:c.-282+5148G>C | ENSP00000429378.1:n.-282+5148G>C |
| XM_017009723.2:c.-208+5148G>C | XP_016865212.1:n.-208+5148G>C |
| XM_017009724.1:c.-208+146582G>C | XP_016865213.1:n.-208+146582G>C |