Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45994231T>G , CM000683.2:g.45994231T>G | GRCh38 |
| NC_000021.8:g.47414145T>G , CM000683.1:g.47414145T>G | GRCh37 |
| NC_000021.7:g.46238573T>G | NCBI36 |
| NG_008674.1:g.17483T>G , LRG_475:g.17483T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1398+2T>G MANE Select | NP_001839.2:n.1398+2T>G |
| ENST00000361866.8:c.1398+2T>G MANE Select | ENSP00000355180.3:n.1398+2T>G |
| NM_001848.2:c.1398+2T>G , LRG_475t1:c.1398+2T>G | NP_001839.2:n.1398+2T>G |
| ENST00000361866.7:c.1398+2T>G | ENSP00000355180.3:n.1398+2T>G |
| ENST00000612273.1:c.1398+2T>G | ENSP00000483630.1:n.1398+2T>G |
| ENST00000683550.1:n.173+2T>G |