Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40099009T>A , CM000679.2:g.40099009T>A | GRCh38 |
| NC_000017.10:g.38255262T>A , CM000679.1:g.38255262T>A | GRCh37 |
| NC_000017.9:g.35508788T>A | NCBI36 |
| NG_033084.1:g.6717A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.31+1055A>T MANE Select | ENSP00000246672.3:n.31+1055A>T | |
| ENST00000246672.3:c.31+1055A>T | ENSP00000246672.3:n.31+1055A>T | |
| NM_021724.4:c.31+1055A>T | NP_068370.1:n.31+1055A>T | |
| NM_021724.5:c.31+1055A>T MANE Select | NP_068370.1:n.31+1055A>T |