Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807258C= , CM000669.2:g.148807258C= | GRCh38 |
| NC_000007.13:g.148504350C= , CM000669.1:g.148504350C= | GRCh37 |
| NC_000007.12:g.148135283C= | NCBI36 |
| NG_032043.1:g.82092G= , LRG_531:g.82092G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1540G= | ENSP00000507503.1:n.*1540G= | |
| XR_928101.1:n.515+2173C= | ||
| XR_928102.1:n.722+2173C= |