Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56044117A>G , CM000674.2:g.56044117A>G | GRCh38 |
| NC_000012.11:g.56437901A>G , CM000674.1:g.56437901A>G | GRCh37 |
| NC_000012.10:g.54724168A>G | NCBI36 |
| NG_023201.1:g.7216A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029.5:c.313-2A>G MANE Select | NP_001020.2:n.313-2A>G |
| ENST00000646449.2:c.313-2A>G MANE Select | ENSP00000496643.1:n.313-2A>G |
| NM_001029.3:c.313-2A>G | NP_001020.2:n.313-2A>G |
| ENST00000356464.10:c.313-2A>G | ENSP00000348849.5:n.313-2A>G |
| ENST00000356464.9:c.313-2A>G | ENSP00000348849.5:n.313-2A>G |
| ENST00000548590.1:n.1100-2A>G | |
| ENST00000552361.1:c.313-2A>G | ENSP00000450339.1:n.313-2A>G |