Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62531579C>A , CM000672.2:g.62531579C>A | GRCh38 |
| NC_000010.10:g.64291338C>A , CM000672.1:g.64291338C>A | GRCh37 |
| NC_000010.9:g.63961344C>A | NCBI36 |
| NG_021209.1:g.162423C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+71782C>A | ENSP00000502188.1:n.981+71782C>A | |
| ENST00000395251.5:c.-185+10982C>A | ENSP00000378672.1:n.-185+10982C>A | |
| ENST00000410046.7:c.981+71782C>A | ENSP00000387091.3:n.981+71782C>A | |
| NM_199451.2:c.981+71782C>A | NP_955523.1:n.981+71782C>A | |
| NM_199452.3:c.-185+10982C>A | NP_955524.3:n.-185+10982C>A | |
| XM_017015937.2:c.982-12630C>A | XP_016871426.1:n.982-12630C>A | |
| NM_199451.3:c.981+71782C>A | NP_955523.1:n.981+71782C>A |