Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744726C>A , CM000679.2:g.47744726C>A | GRCh38 |
| NC_000017.10:g.45822092C>A , CM000679.1:g.45822092C>A | GRCh37 |
| NC_000017.9:g.43177091C>A | NCBI36 |
| NG_012166.1:g.16483C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013351.2:c.990-22C>A MANE Select | NP_037483.1:n.990-22C>A |
| ENST00000177694.2:c.990-22C>A MANE Select | ENSP00000177694.1:n.990-22C>A |
| NM_013351.1:c.990-22C>A | NP_037483.1:n.990-22C>A |
| ENST00000177694.1:c.990-22C>A | ENSP00000177694.1:n.990-22C>A |
| XM_011524698.1:c.1053-22C>A | XP_011523000.1:n.1053-22C>A |
| XM_011524699.1:c.657-22C>A | XP_011523001.1:n.657-22C>A |