Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13276938T= , CM000673.2:g.13276938T= | GRCh38 |
| NC_000011.9:g.13298485T= , CM000673.1:g.13298485T= | GRCh37 |
| NC_000011.8:g.13255061T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001351804.1:c.-397T= | NP_001338733.1:n.-397T= |
| ENST00000529050.5:c.-216T= | ENSP00000434044.1:n.-216T= |
| ENST00000534544.5:c.-342T= | ENSP00000431566.1:n.-342T= |
| XM_011520105.3:c.-87T= | XP_011518407.2:n.-87T= |
| XM_011520107.3:c.-87T= | XP_011518409.2:n.-87T= |
| XM_017017738.2:c.-87T= | XP_016873227.1:n.-87T= |
| XM_017017739.2:c.-87T= | XP_016873228.1:n.-87T= |
| XR_001747876.2:n.387T= | |
| XR_002957147.1:n.387T= | |
| XR_002957148.1:n.387T= | |
| XR_931047.1:n.635A= |