Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807372G= , CM000669.2:g.148807372G= | GRCh38 |
| NC_000007.13:g.148504464G= , CM000669.1:g.148504464G= | GRCh37 |
| NC_000007.12:g.148135397G= | NCBI36 |
| NG_032043.1:g.81978C= , LRG_531:g.81978C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1426C= | ENSP00000507503.1:n.*1426C= | |
| NM_001203247.1:c.*274C= | NP_001190176.1:n.*274C= | |
| NM_001203248.1:c.*274C= | NP_001190177.1:n.*274C= | |
| NM_001203249.1:c.*274C= | NP_001190178.1:n.*274C= | |
| NM_004456.4:c.*274C= , LRG_531t1:c.*274C= | NP_004447.2:n.*274C= | |
| NM_152998.2:c.*274C= | NP_694543.1:n.*274C= | |
| XR_928101.1:n.515+2287G= | ||
| XR_928102.1:n.722+2287G= |