Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807264T>G , CM000669.2:g.148807264T>G | GRCh38 |
| NC_000007.13:g.148504356T>G , CM000669.1:g.148504356T>G | GRCh37 |
| NC_000007.12:g.148135289T>G | NCBI36 |
| NG_032043.1:g.82086A>C , LRG_531:g.82086A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1534A>C | ENSP00000507503.1:n.*1534A>C | |
| XR_928101.1:n.515+2179T>G | ||
| XR_928102.1:n.722+2179T>G |