Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32065510A= , CM000684.2:g.32065510A= | GRCh38 |
| NC_000022.10:g.32461497A= , CM000684.1:g.32461497A= | GRCh37 |
| NC_000022.9:g.30791497A= | NCBI36 |
| NG_017045.1:g.27479A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.208-1425A= MANE Select | NP_000334.1:n.208-1425A= |
| ENST00000266088.9:c.208-1425A= MANE Select | ENSP00000266088.4:n.208-1425A= |
| NM_000343.3:c.208-1425A= | NP_000334.1:n.208-1425A= |
| NM_001256314.1:c.-174-1425A= | NP_001243243.1:n.-174-1425A= |
| NM_001256314.2:c.-174-1425A= | NP_001243243.1:n.-174-1425A= |
| ENST00000266088.8:c.208-1425A= | ENSP00000266088.4:n.208-1425A= |
| ENST00000543737.2:c.-174-1425A= | ENSP00000444898.1:n.-174-1425A= |
| XM_011530331.1:c.208-1425A= | XP_011528633.1:n.208-1425A= |