Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120169734T>A , CM000673.2:g.120169734T>A | GRCh38 |
| NC_000011.9:g.120040442T>A , CM000673.1:g.120040442T>A | GRCh37 |
| NC_000011.8:g.119545652T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_159965.1:n.173-37T>A | |
| ENST00000529040.1:c.-115+15476A>T | ENSP00000433084.1:n.-115+15476A>T |
| ENST00000532833.1:c.-115+15516A>T | ENSP00000436567.1:n.-115+15516A>T |
| XM_011542731.1:c.-115+15516A>T | XP_011541033.1:n.-115+15516A>T |
| XM_017018645.2:c.-76T>A | XP_016874134.1:n.-76T>A |
| XR_110528.5:n.606-37T>A |