Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315473C>A , CM000675.2:g.32315473C>A | GRCh38 |
| NC_000013.10:g.32889610C>A , CM000675.1:g.32889610C>A | GRCh37 |
| NC_000013.9:g.31787610C>A | NCBI36 |
| NG_012772.3:g.4994C>A , LRG_293:g.4994C>A | |
| NG_017006.1:g.1482G>T | |
| NG_017006.2:g.4891G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+328C>A | ENSP00000439902.1:n.-40+328C>A | |
| XM_011535203.1:c.-40+328C>A | XP_011533505.1:n.-40+328C>A |