HGVS | Genome Assembly |
---|---|
NC_000007.14:g.148807257G>A , CM000669.2:g.148807257G>A | GRCh38 |
NC_000007.13:g.148504349G>A , CM000669.1:g.148504349G>A | GRCh37 |
NC_000007.12:g.148135282G>A | NCBI36 |
NG_032043.1:g.82093C>T , LRG_531:g.82093C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683292.1:c.*1541C>T | ENSP00000507503.1:n.*1541C>T | |
XR_928101.1:n.515+2172G>A | ||
XR_928102.1:n.722+2172G>A |