Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711394A= , CM000677.2:g.44711394A= | GRCh38 |
| NC_000015.9:g.45003592A= , CM000677.1:g.45003592A= | GRCh37 |
| NC_000015.8:g.42790884A= | NCBI36 |
| NG_012920.1:g.4908A= | |
| NG_012920.2:g.4918A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.37A= (B2M) | ||
| XM_011521338.3:c.-628T= (PATL2) | XP_011519640.1:n.-628T= | |
| XM_011521339.3:c.-509T= (PATL2) | XP_011519641.1:n.-509T= | |
| XM_011521340.3:c.-450T= (PATL2) | XP_011519642.1:n.-450T= | |
| XM_011521343.3:c.-712T= (PATL2) | XP_011519645.1:n.-712T= | |
| XM_011521345.3:c.-683T= (PATL2) | XP_011519647.1:n.-683T= |