Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807262A= , CM000669.2:g.148807262A= | GRCh38 |
| NC_000007.13:g.148504354A= , CM000669.1:g.148504354A= | GRCh37 |
| NC_000007.12:g.148135287A= | NCBI36 |
| NG_032043.1:g.82088T= , LRG_531:g.82088T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1536T= | ENSP00000507503.1:n.*1536T= | |
| XR_928101.1:n.515+2177A= | ||
| XR_928102.1:n.722+2177A= |