HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133258308A>C , CM000671.2:g.133258308A>C | GRCh38 |
NG_006669.1:g.19355T>G | |
NG_006669.2:g.21907T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.234-176T>G | ||
ENST00000647353.1:n.54-7156T>G | ||
ENST00000651471.1:n.239-176T>G | ||
ENST00000679909.1:c.28+16854T>G | ENSP00000506089.1:n.28+16854T>G | |
ENST00000453660.3:n.216-176T>G | ||
ENST00000538324.2:c.204-176T>G | ENSP00000483018.1:n.204-176T>G | |
ENST00000611156.4:c.204-176T>G | ENSP00000483265.1:n.204-176T>G | |
NM_020469.2:c.204-176T>G | NP_065202.2:n.204-176T>G | |
NM_020469.3:c.204-176T>G | NP_065202.2:n.204-176T>G |