Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40099020G>T , CM000679.2:g.40099020G>T | GRCh38 |
| NC_000017.10:g.38255273G>T , CM000679.1:g.38255273G>T | GRCh37 |
| NC_000017.9:g.35508799G>T | NCBI36 |
| NG_033084.1:g.6706C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.31+1044C>A MANE Select | ENSP00000246672.3:n.31+1044C>A | |
| ENST00000246672.3:c.31+1044C>A | ENSP00000246672.3:n.31+1044C>A | |
| NM_021724.4:c.31+1044C>A | NP_068370.1:n.31+1044C>A | |
| NM_021724.5:c.31+1044C>A MANE Select | NP_068370.1:n.31+1044C>A |