Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13277203C= , CM000673.2:g.13277203C= | GRCh38 |
| NC_000011.9:g.13298750C= , CM000673.1:g.13298750C= | GRCh37 |
| NC_000011.8:g.13255326C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001351804.1:c.-263+131C= | NP_001338733.1:n.-263+131C= |
| ENST00000529050.5:c.-82+131C= | ENSP00000434044.1:n.-82+131C= |
| ENST00000534544.5:c.-208+131C= | ENSP00000431566.1:n.-208+131C= |
| XM_011520105.3:c.48+131C= | XP_011518407.2:n.48+131C= |
| XM_011520107.3:c.48+131C= | XP_011518409.2:n.48+131C= |
| XM_017017738.2:c.48+131C= | XP_016873227.1:n.48+131C= |
| XM_017017739.2:c.48+131C= | XP_016873228.1:n.48+131C= |
| XR_001747876.2:n.521+131C= | |
| XR_002957147.1:n.521+131C= | |
| XR_002957148.1:n.521+131C= | |
| XR_931047.1:n.370G= |