Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33035980C>A , CM000675.2:g.33035980C>A | GRCh38 |
| NC_000013.10:g.33610117C>A , CM000675.1:g.33610117C>A | GRCh37 |
| NC_000013.9:g.32508117C>A | NCBI36 |
| NG_011485.1:g.24547C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.820-17787C>A MANE Select | ENSP00000369442.3:n.820-17787C>A | |
| ENST00000380099.3:c.820-17787C>A | ENSP00000369442.3:n.820-17787C>A | |
| ENST00000487852.1:n.828-17787C>A | ||
| NM_004795.3:c.820-17787C>A | NP_004786.2:n.820-17787C>A | |
| XM_006719895.1:c.-102-17787C>A | XP_006719958.1:n.-102-17787C>A | |
| XM_006719895.2:c.-102-17787C>A | XP_006719958.1:n.-102-17787C>A | |
| NM_004795.4:c.820-17787C>A MANE Select | NP_004786.2:n.820-17787C>A |