Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151399662G>A , CM000663.2:g.151399662G>A | GRCh38 |
| NC_000001.10:g.151372138G>A , CM000663.1:g.151372138G>A | GRCh37 |
| NC_000001.9:g.149638762G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002796.3:c.75G>A MANE Select | NP_002787.2:p.Pro25= |
| ENST00000290541.7:c.75G>A MANE Select | ENSP00000290541.6:p.Pro25= |
| NM_002796.2:c.75G>A | NP_002787.2:p.Pro25= |
| ENST00000290541.6:c.75G>A | ENSP00000290541.6:p.Pro25= |
| ENST00000476467.1:n.76G>A | |
| ENST00000493673.1:n.73G>A | |
| ENST00000495288.5:n.103G>A | |
| ENST00000495805.5:n.84G>A |