Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19952077C>A , CM000670.2:g.19952077C>A | GRCh38 |
| NC_000008.10:g.19809588C>A , CM000670.1:g.19809588C>A | GRCh37 |
| NC_000008.9:g.19853868C>A | NCBI36 |
| NG_008855.1:g.18007C>A | |
| NG_008855.2:g.55361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+129C>A MANE Select | ENSP00000497642.1:n.429+129C>A | |
| ENST00000311322.8:c.429+129C>A | ENSP00000309757.6:n.429+129C>A | |
| ENST00000520959.5:c.201+129C>A | ENSP00000428496.1:n.201+129C>A | |
| NM_000237.2:c.429+129C>A | NP_000228.1:n.429+129C>A | |
| NM_000237.3:c.429+129C>A MANE Select | NP_000228.1:n.429+129C>A |