Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587525C>T , CM000681.2:g.48587525C>T | GRCh38 |
| NC_000019.9:g.49090782C>T , CM000681.1:g.49090782C>T | GRCh37 |
| NC_000019.8:g.53782594C>T | NCBI36 |
| NG_029063.1:g.40354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.423+88C>T MANE Select | ENSP00000201586.2:n.423+88C>T | |
| ENST00000201586.6:c.423+88C>T | ENSP00000201586.1:n.423+88C>T | |
| ENST00000323090.4:c.378+88C>T | ENSP00000312880.3:n.378+88C>T | |
| NM_004605.2:c.378+88C>T | NP_004596.2:n.378+88C>T | |
| NM_177973.1:c.423+88C>T | NP_814444.1:n.423+88C>T | |
| NM_177973.2:c.423+88C>T MANE Select | NP_814444.1:n.423+88C>T |