HGVS | Genome Assembly |
---|---|
NC_000007.14:g.148807310T>A , CM000669.2:g.148807310T>A | GRCh38 |
NC_000007.13:g.148504402T>A , CM000669.1:g.148504402T>A | GRCh37 |
NC_000007.12:g.148135335T>A | NCBI36 |
NG_032043.1:g.82040A>T , LRG_531:g.82040A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683292.1:c.*1488A>T | ENSP00000507503.1:n.*1488A>T | |
XR_928101.1:n.515+2225T>A | ||
XR_928102.1:n.722+2225T>A |