HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133274414A>T , CM000671.2:g.133274414A>T | GRCh38 |
NG_006669.2:g.5801T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.58+748T>A | ||
ENST00000647353.1:n.53+748T>A | ||
ENST00000651471.1:n.63+1548T>A | ||
ENST00000679909.1:c.28+748T>A | ENSP00000506089.1:n.28+748T>A | |
ENST00000453660.3:n.40+748T>A | ||
ENST00000538324.2:c.28+748T>A | ENSP00000483018.1:n.28+748T>A | |
ENST00000611156.4:c.28+748T>A | ENSP00000483265.1:n.28+748T>A | |
NM_020469.2:c.28+748T>A | NP_065202.2:n.28+748T>A | |
NM_020469.3:c.28+748T>A | NP_065202.2:n.28+748T>A |