Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94935387C= , CM000666.2:g.94935387C= | GRCh38 |
| NC_000004.11:g.95856538C= , CM000666.1:g.95856538C= | GRCh37 |
| NC_000004.10:g.96075561C= | NCBI36 |
| NG_009245.1:g.182411C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515059.6:c.-113+59487C= MANE Select | ENSP00000426617.1:n.-113+59487C= | |
| ENST00000515059.5:c.-113+59487C= | ENSP00000426617.1:n.-113+59487C= | |
| NM_001203.2:c.-113+59487C= | NP_001194.1:n.-113+59487C= | |
| XM_011532201.1:c.-18+59487C= | XP_011530503.1:n.-18+59487C= | |
| XM_011532201.2:c.-18+59487C= | XP_011530503.1:n.-18+59487C= | |
| XM_017008558.1:c.-113+59487C= | XP_016864047.1:n.-113+59487C= | |
| XM_017008559.1:c.-113+36337C= | XP_016864048.1:n.-113+36337C= | |
| NM_001203.3:c.-113+59487C= MANE Select | NP_001194.1:n.-113+59487C= |