Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990545C>A , CM000683.2:g.45990545C>A | GRCh38 |
| NC_000021.8:g.47410459C>A , CM000683.1:g.47410459C>A | GRCh37 |
| NC_000021.7:g.46234887C>A | NCBI36 |
| NG_008674.1:g.13797C>A , LRG_475:g.13797C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+123C>A MANE Select | ENSP00000355180.3:n.1002+123C>A | |
| ENST00000361866.7:c.1002+123C>A | ENSP00000355180.3:n.1002+123C>A | |
| ENST00000612273.1:c.1002+123C>A | ENSP00000483630.1:n.1002+123C>A | |
| NM_001848.2:c.1002+123C>A , LRG_475t1:c.1002+123C>A | NP_001839.2:n.1002+123C>A | |
| NM_001848.3:c.1002+123C>A MANE Select | NP_001839.2:n.1002+123C>A |