Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807358A>T , CM000669.2:g.148807358A>T | GRCh38 |
| NC_000007.13:g.148504450A>T , CM000669.1:g.148504450A>T | GRCh37 |
| NC_000007.12:g.148135383A>T | NCBI36 |
| NG_032043.1:g.81992T>A , LRG_531:g.81992T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1440T>A | ENSP00000507503.1:n.*1440T>A | |
| XR_928101.1:n.515+2273A>T | ||
| XR_928102.1:n.722+2273A>T |