Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778271C= , CM000673.2:g.116778271C= | GRCh38 |
| NC_000011.9:g.116648987C= , CM000673.1:g.116648987C= | GRCh37 |
| NC_000011.8:g.116154197C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*654G= MANE Select | ENSP00000227322.3:n.*654G= | |
| ENST00000227322.7:c.*654G= | ENSP00000227322.3:n.*654G= | |
| ENST00000429220.5:c.1813G= | ||
| ENST00000444935.5:c.1946G= | ||
| NM_001317086.1:c.*654G= | NP_001304015.1:n.*654G= | |
| NM_003904.4:c.*654G= | NP_003895.1:n.*654G= | |
| NM_003904.5:c.*654G= MANE Select | NP_003895.1:n.*654G= | |
| NM_001317086.2:c.*654G= | NP_001304015.1:n.*654G= |