HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133260074G>T , CM000671.2:g.133260074G>T | GRCh38 |
NG_006669.1:g.17576C>A | |
NG_006669.2:g.20141C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.186-208C>A | ||
ENST00000647353.1:n.54-8922C>A | ||
ENST00000651471.1:n.191-208C>A | ||
ENST00000679909.1:c.28+15088C>A | ENSP00000506089.1:n.28+15088C>A | |
ENST00000453660.3:n.168-208C>A | ||
ENST00000538324.2:c.156-208C>A | ENSP00000483018.1:n.156-208C>A | |
ENST00000611156.4:c.156-208C>A | ENSP00000483265.1:n.156-208C>A | |
NM_020469.2:c.156-208C>A | NP_065202.2:n.156-208C>A | |
NM_020469.3:c.156-208C>A | NP_065202.2:n.156-208C>A |