Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20354332A>G , CM000678.2:g.20354332A>G | GRCh38 |
| NC_000016.9:g.20365654A>G , CM000678.1:g.20365654A>G | GRCh37 |
| NC_000016.8:g.20273155A>G | NCBI36 |
| NG_008151.1:g.3384T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000570689.5:c.-40+1862T>C | ENSP00000460548.1:n.-40+1862T>C |
| XM_011545938.1:c.-40+1862T>C | XP_011544240.1:n.-40+1862T>C |