HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133274306G>A , CM000671.2:g.133274306G>A | GRCh38 |
NG_006669.1:g.3328C>T | |
NG_006669.2:g.5909C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.58+856C>T | ||
ENST00000647353.1:n.53+856C>T | ||
ENST00000651471.1:n.63+1656C>T | ||
ENST00000679909.1:c.28+856C>T | ENSP00000506089.1:n.28+856C>T | |
ENST00000453660.3:n.40+856C>T | ||
ENST00000538324.2:c.28+856C>T | ENSP00000483018.1:n.28+856C>T | |
ENST00000611156.4:c.28+856C>T | ENSP00000483265.1:n.28+856C>T | |
NM_020469.2:c.28+856C>T | NP_065202.2:n.28+856C>T | |
NM_020469.3:c.28+856C>T | NP_065202.2:n.28+856C>T |