Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61781965G= , CM000672.2:g.61781965G= | GRCh38 |
| NC_000010.10:g.63541723G= , CM000672.1:g.63541723G= | GRCh37 |
| NC_000010.9:g.63211729G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001747458.1:n.436-126C= | |
| XR_001747459.1:n.559-126C= | |
| XR_001747460.1:n.597-126C= | |
| XR_001747461.1:n.435+263C= | |
| XR_001747462.1:n.527-126C= | |
| XR_001747463.1:n.326-126C= | |
| XR_002957080.1:n.558+263C= | |
| XR_002957081.1:n.396+263C= |