HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926528A>G , CM000665.2:g.150926528A>G | GRCh38 |
NC_000003.11:g.150644315A>G , CM000665.1:g.150644315A>G | GRCh37 |
NC_000003.10:g.152127005A>G | NCBI36 |
NG_009168.1:g.51472T>C , LRG_700:g.51472T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295911.6:c.*324T>C | ENSP00000295911.2:n.*324T>C | |
ENST00000562308.5:c.104+15054T>C | ||
ENST00000565169.1:c.162+15054T>C | ||
ENST00000569170.5:c.162+15054T>C | ||
NM_052995.2:c.*324T>C , LRG_700t2:c.*324T>C | NP_443721.1:n.*324T>C | |
XR_924167.1:n.2419T>C |