Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315457C= , CM000675.2:g.32315457C= | GRCh38 |
| NC_000013.10:g.32889594C= , CM000675.1:g.32889594C= | GRCh37 |
| NC_000013.9:g.31787594C= | NCBI36 |
| NG_012772.3:g.4978C= , LRG_293:g.4978C= | |
| NG_017006.1:g.1498G= | |
| NG_017006.2:g.4907G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+312C= | ENSP00000439902.1:n.-40+312C= | |
| XM_011535203.1:c.-40+312C= | XP_011533505.1:n.-40+312C= |