Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88086259T>A , CM000673.2:g.88086259T>A | GRCh38 |
| NC_000011.9:g.87819427T>A , CM000673.1:g.87819427T>A | GRCh37 |
| NC_000011.8:g.87459075T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017017455.2:c.483+63416A>T | XP_016872944.1:n.483+63416A>T |
| XM_017017456.2:c.483+63416A>T | XP_016872945.1:n.483+63416A>T |