Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807364T>C , CM000669.2:g.148807364T>C | GRCh38 |
| NC_000007.13:g.148504456T>C , CM000669.1:g.148504456T>C | GRCh37 |
| NC_000007.12:g.148135389T>C | NCBI36 |
| NG_032043.1:g.81986A>G , LRG_531:g.81986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1434A>G | ENSP00000507503.1:n.*1434A>G | |
| XR_928101.1:n.515+2279T>C | ||
| XR_928102.1:n.722+2279T>C |