HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926530T>A , CM000665.2:g.150926530T>A | GRCh38 |
NC_000003.11:g.150644317T>A , CM000665.1:g.150644317T>A | GRCh37 |
NC_000003.10:g.152127007T>A | NCBI36 |
NG_009168.1:g.51470A>T , LRG_700:g.51470A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*322A>T | ENSP00000295911.2:n.*322A>T | |
ENST00000562308.5:c.104+15052A>T | ||
ENST00000565169.1:c.162+15052A>T | ||
ENST00000569170.5:c.162+15052A>T | ||
NM_052995.2:c.*322A>T , LRG_700t2:c.*322A>T | NP_443721.1:n.*322A>T | |
XR_924167.1:n.2417A>T |