Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085848T= , CM000666.2:g.186085848T= | GRCh38 |
| NC_000004.11:g.187007002T= , CM000666.1:g.187007002T= | GRCh37 |
| NC_000004.10:g.187243996T= | NCBI36 |
| NG_007278.1:g.21694T= , LRG_117:g.21694T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3242T= | ENSP00000513675.1:n.*3242T= | |
| ENST00000698353.1:n.3565T= | ||
| ENST00000698354.1:c.*975T= | ENSP00000513676.1:n.*975T= | |
| ENST00000296795.8:c.*975T= MANE Select | ENSP00000296795.3:n.*975T= | |
| ENST00000296795.7:c.*975T= | ENSP00000296795.2:n.*975T= | |
| NM_003265.3:c.*975T= MANE Select | NP_003256.1:n.*975T= |