Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583727G>A , CM000679.2:g.41583727G>A | GRCh38 |
| NC_000017.10:g.39739979G>A , CM000679.1:g.39739979G>A | GRCh37 |
| NC_000017.9:g.36993505G>A | NCBI36 |
| NG_008624.1:g.8169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.927+33C>T MANE Select | ENSP00000167586.6:n.927+33C>T | |
| ENST00000167586.6:c.927+33C>T | ENSP00000167586.6:n.927+33C>T | |
| ENST00000476662.1:n.377+33C>T | ||
| NM_000526.4:c.927+33C>T | NP_000517.2:n.927+33C>T | |
| NM_000526.5:c.927+33C>T MANE Select | NP_000517.3:n.927+33C>T |