HGVS | Genome Assembly |
---|---|
NC_000007.14:g.148807261T>C , CM000669.2:g.148807261T>C | GRCh38 |
NC_000007.13:g.148504353T>C , CM000669.1:g.148504353T>C | GRCh37 |
NC_000007.12:g.148135286T>C | NCBI36 |
NG_032043.1:g.82089A>G , LRG_531:g.82089A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000683292.1:c.*1537A>G | ENSP00000507503.1:n.*1537A>G | |
XR_928101.1:n.515+2176T>C | ||
XR_928102.1:n.722+2176T>C |