Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45106830A>C , CM000677.2:g.45106830A>C | GRCh38 |
| NC_000015.9:g.45399028A>C , CM000677.1:g.45399028A>C | GRCh37 |
| NC_000015.8:g.43186320A>C | NCBI36 |
| NG_009447.1:g.12332T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.1831+2T>G MANE Select | NP_001350640.1:n.1831+2T>G |
| ENST00000389039.11:c.1831+2T>G MANE Select | ENSP00000373691.7:n.1831+2T>G |
| NM_001363711.1:c.1831+2T>G | NP_001350640.1:n.1831+2T>G |
| NM_014080.4:c.1831+2T>G | NP_054799.4:n.1831+2T>G |
| NM_014080.5:c.1831+2T>G | NP_054799.4:n.1831+2T>G |
| ENST00000389039.10:c.1831+2T>G | ENSP00000373691.6:n.1831+2T>G |
| ENST00000558383.1:n.3562+2T>G | |
| ENST00000603300.1:c.1831+2T>G | ENSP00000475084.1:n.1831+2T>G |
| XM_005254421.2:c.1831+2T>G | XP_005254478.1:n.1831+2T>G |