Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761790G= , CM000667.2:g.110761790G= | GRCh38 |
| NC_000005.9:g.110097490G= , CM000667.1:g.110097490G= | GRCh37 |
| NC_000005.8:g.110125389G= | NCBI36 |
| NG_051334.1:g.28655G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.*8G= MANE Select | ENSP00000348211.3:n.*8G= | |
| ENST00000355943.7:c.*8G= | ENSP00000348211.3:n.*8G= | |
| ENST00000447245.6:c.*8G= | ENSP00000399717.2:n.*8G= | |
| ENST00000504098.1:c.*8G= | ENSP00000425708.1:n.*8G= | |
| ENST00000509432.1:c.*8G= | ENSP00000426604.1:n.*8G= | |
| ENST00000513706.2:n.2865G= | ||
| ENST00000513807.5:c.*8G= | ENSP00000421134.1:n.*8G= | |
| NM_001303249.1:c.*8G= | NP_001290178.1:n.*8G= | |
| NM_001303250.1:c.*8G= | NP_001290179.1:n.*8G= | |
| NM_138773.2:c.*8G= | NP_620128.1:n.*8G= | |
| NM_001303249.2:c.*8G= | NP_001290178.1:n.*8G= | |
| NM_001303250.2:c.*8G= | NP_001290179.1:n.*8G= | |
| NM_138773.3:c.*8G= | NP_620128.1:n.*8G= | |
| NR_138151.1:n.1539G= | ||
| NM_138773.4:c.*8G= MANE Select | NP_620128.1:n.*8G= | |
| NM_001303249.3:c.*8G= | NP_001290178.1:n.*8G= | |
| NM_001303250.3:c.*8G= | NP_001290179.1:n.*8G= | |
| NR_138151.2:n.1504G= |