Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80103143C= , CM000674.2:g.80103143C= | GRCh38 |
| NC_000012.11:g.80496923C= , CM000674.1:g.80496923C= | GRCh37 |
| NC_000012.10:g.79021054C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.-20+3538C= MANE Select | ENSP00000447211.2:n.-20+3538C= | |
| ENST00000643417.1:n.69+3538C= | ||
| ENST00000646859.1:c.-1032+3538C= | ENSP00000496036.1:n.-1032+3538C= | |
| ENST00000492623.1:n.191G= | ||
| NM_001368062.1:c.-1059+3538C= | NP_001354991.1:n.-1059+3538C= | |
| NM_001368062.3:c.-1032+3538C= | NP_001354991.2:n.-1032+3538C= | |
| NM_001378609.3:c.-20+3538C= MANE Select | NP_001365538.2:n.-20+3538C= | |
| NM_001378610.3:c.-592+3538C= | NP_001365539.2:n.-592+3538C= |