Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.54795246C>A , CM000680.2:g.54795246C>A | GRCh38 |
| NC_000018.9:g.52462477C>A , CM000680.1:g.52462477C>A | GRCh37 |
| NC_000018.8:g.50613475C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586570.5:c.-20+77105C>A | ENSP00000468542.1:n.-20+77105C>A | |
| XM_005266733.1:c.-20+77105C>A | XP_005266790.1:n.-20+77105C>A | |
| XM_017025913.1:c.-828-32850C>A | XP_016881402.1:n.-828-32850C>A | |
| XM_017025914.1:c.-223-66774C>A | XP_016881403.1:n.-223-66774C>A | |
| NM_001375327.1:c.-20+77105C>A | NP_001362256.1:n.-20+77105C>A |