Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587496G>A , CM000681.2:g.48587496G>A | GRCh38 |
| NC_000019.9:g.49090753G>A , CM000681.1:g.49090753G>A | GRCh37 |
| NC_000019.8:g.53782565G>A | NCBI36 |
| NG_029063.1:g.40325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.423+59G>A MANE Select | ENSP00000201586.2:n.423+59G>A | |
| ENST00000201586.6:c.423+59G>A | ENSP00000201586.1:n.423+59G>A | |
| ENST00000323090.4:c.378+59G>A | ENSP00000312880.3:n.378+59G>A | |
| NM_004605.2:c.378+59G>A | NP_004596.2:n.378+59G>A | |
| NM_177973.1:c.423+59G>A | NP_814444.1:n.423+59G>A | |
| NM_177973.2:c.423+59G>A MANE Select | NP_814444.1:n.423+59G>A |