Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25934131G>C , CM000672.2:g.25934131G>C | GRCh38 |
| NC_000010.10:g.26223060G>C , CM000672.1:g.26223060G>C | GRCh37 |
| NC_000010.9:g.26263066G>C | NCBI36 |
| NG_011635.1:g.5059G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_017433.4:c.-302G>C | NP_059129.3:n.-302G>C | |
| XM_011519500.1:c.-359G>C | XP_011517802.1:n.-359G>C | |
| XM_011519501.1:c.-215G>C | XP_011517803.1:n.-215G>C |