Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75915137A>T , CM000669.2:g.75915137A>T | GRCh38 |
| NC_000007.13:g.75544455A>T , CM000669.1:g.75544455A>T | GRCh37 |
| NC_000007.12:g.75382391A>T | NCBI36 |
| NG_008930.1:g.5036A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000941.2:c.-47A>T | NP_000932.3:n.-47A>T |
| ENST00000439963.5:c.-5+7506A>T | ENSP00000390540.1:n.-5+7506A>T |
| ENST00000453773.5:c.-5+15865A>T | ENSP00000395813.1:n.-5+15865A>T |
| ENST00000461988.5:c.-47A>T | ENSP00000419970.1:n.-47A>T |
| ENST00000706544.1:c.-47A>T | ENSP00000516442.1:n.-47A>T |