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