Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110434445A>G , CM000675.2:g.110434445A>G | GRCh38 |
| NC_000013.10:g.111086792A>G , CM000675.1:g.111086792A>G | GRCh37 |
| NC_000013.9:g.109884793A>G | NCBI36 |
| NG_032137.1:g.132162A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.726+3A>G MANE Select | NP_001837.2:n.726+3A>G |
| ENST00000360467.7:c.726+3A>G MANE Select | ENSP00000353654.5:n.726+3A>G |
| NM_001846.2:c.726+3A>G | NP_001837.2:n.726+3A>G |
| NM_001846.3:c.726+3A>G | NP_001837.2:n.726+3A>G |
| ENST00000360467.5:c.726+3A>G | ENSP00000353654.5:n.726+3A>G |
| ENST00000650540.1:c.726+3A>G | ENSP00000497878.1:n.726+3A>G |