Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39668086G>C , CM000679.2:g.39668086G>C | GRCh38 |
| NC_000017.10:g.37824339G>C , CM000679.1:g.37824339G>C | GRCh37 |
| NC_000017.9:g.35077865G>C | NCBI36 |
| NG_008892.1:g.7741G>C , LRG_210:g.7741G>C | |
| NG_042278.1:g.5106G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_073461.1:n.90+16G>C | |
| NR_073461.2:n.52+16G>C | |
| ENST00000394246.1:c.-93+16G>C | ENSP00000377791.1:n.-93+16G>C |