HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150926898C>T , CM000665.2:g.150926898C>T | GRCh38 |
NC_000003.11:g.150644685C>T , CM000665.1:g.150644685C>T | GRCh37 |
NC_000003.10:g.152127375C>T | NCBI36 |
NG_009168.1:g.51102G>A , LRG_700:g.51102G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327047.6:c.*1038G>A MANE Select | ENSP00000322280.1:n.*1038G>A | |
ENST00000295911.6:c.343-26G>A | ENSP00000295911.2:n.343-26G>A | |
ENST00000327047.5:c.*1038G>A | ENSP00000322280.1:n.*1038G>A | |
ENST00000562308.5:c.104+14684G>A | ||
ENST00000565169.1:c.162+14684G>A | ||
ENST00000569170.5:c.162+14684G>A | ||
NM_001195794.1:c.*1038G>A , LRG_700t1:c.*1038G>A | NP_001182723.1:n.*1038G>A | |
NM_001256819.1:c.*1351G>A | NP_001243748.1:n.*1351G>A | |
NM_052995.2:c.343-26G>A , LRG_700t2:c.343-26G>A | NP_443721.1:n.343-26G>A | |
NM_174878.2:c.*1038G>A | NP_777367.1:n.*1038G>A | |
NR_046380.2:n.2218G>A | ||
XR_924167.1:n.2049G>A | ||
NM_001256819.2:c.*1351G>A | NP_001243748.1:n.*1351G>A | |
NM_174878.3:c.*1038G>A MANE Select | NP_777367.1:n.*1038G>A | |
NR_046380.3:n.1946G>A |