Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33073957T= , CM000668.2:g.33073957T= | GRCh38 |
| NC_000006.11:g.33041734T= , CM000668.1:g.33041734T= | GRCh37 |
| NC_000006.10:g.33149712T= | NCBI36 |
| NG_033241.1:g.11822A= | |
| NG_033242.1:g.3032T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417724.1:c.-140-247A= | ENSP00000398134.1:n.-140-247A= | |
| ENST00000419277.5:c.-99-288A= | ENSP00000393566.1:n.-99-288A= | |
| ENST00000453337.1:c.-202-185A= | ENSP00000390929.1:n.-202-185A= | |
| ENST00000476642.5:n.77-4071A= | ||
| NM_001242524.1:c.-99-288A= | NP_001229453.1:n.-99-288A= | |
| NM_001242525.1:c.-23-364A= | NP_001229454.1:n.-23-364A= | |
| NM_001242524.2:c.-99-288A= | NP_001229453.1:n.-99-288A= | |
| NM_001242525.2:c.-23-364A= | NP_001229454.1:n.-23-364A= |