Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5938527A>T , CM000673.2:g.5938527A>T | GRCh38 |
| NC_000011.9:g.5959757A>T , CM000673.1:g.5959757A>T | GRCh37 |
| NC_000011.8:g.5916333A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000412903.1:c.-334T>A | ENSP00000388031.1:n.-334T>A |
| XR_002957230.1:n.3001T>A | |
| XR_002957231.1:n.288T>A | |
| XR_002957234.1:n.3007T>A | |
| XR_002957235.1:n.3007T>A |