Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042171T>G , CM000674.2:g.56042171T>G | GRCh38 |
| NC_000012.11:g.56435955T>G , CM000674.1:g.56435955T>G | GRCh37 |
| NC_000012.10:g.54722222T>G | NCBI36 |
| NG_023201.1:g.5270T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.3+2T>G | ENSP00000348849.5:n.3+2T>G | |
| ENST00000646449.2:c.3+2T>G MANE Select | ENSP00000496643.1:n.3+2T>G | |
| ENST00000356464.9:c.3+2T>G | ENSP00000348849.5:n.3+2T>G | |
| ENST00000548590.1:n.30+2T>G | ||
| ENST00000552361.1:c.3+2T>G | ENSP00000450339.1:n.3+2T>G | |
| NM_001029.3:c.3+2T>G | NP_001020.2:n.3+2T>G | |
| NM_001029.5:c.3+2T>G MANE Select | NP_001020.2:n.3+2T>G |