HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133258323A>G , CM000671.2:g.133258323A>G | GRCh38 |
NG_006669.1:g.19340T>C | |
NG_006669.2:g.21892T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.234-191T>C | ||
ENST00000647353.1:n.54-7171T>C | ||
ENST00000651471.1:n.239-191T>C | ||
ENST00000679909.1:c.28+16839T>C | ENSP00000506089.1:n.28+16839T>C | |
ENST00000453660.3:n.216-191T>C | ||
ENST00000538324.2:c.204-191T>C | ENSP00000483018.1:n.204-191T>C | |
ENST00000611156.4:c.204-191T>C | ENSP00000483265.1:n.204-191T>C | |
NM_020469.2:c.204-191T>C | NP_065202.2:n.204-191T>C | |
NM_020469.3:c.204-191T>C | NP_065202.2:n.204-191T>C |