Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315467C= , CM000675.2:g.32315467C= | GRCh38 |
| NC_000013.10:g.32889604C= , CM000675.1:g.32889604C= | GRCh37 |
| NC_000013.9:g.31787604C= | NCBI36 |
| NG_012772.3:g.4988C= , LRG_293:g.4988C= | |
| NG_017006.1:g.1488G= | |
| NG_017006.2:g.4897G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+322C= | ENSP00000439902.1:n.-40+322C= | |
| XM_011535203.1:c.-40+322C= | XP_011533505.1:n.-40+322C= |