HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257498G>C , CM000671.2:g.133257498G>C | GRCh38 |
NC_000009.11:g.136132885G>C , CM000671.1:g.136132885G>C | GRCh37 |
NC_000009.10:g.135122706G>C | NCBI36 |
NG_006669.1:g.20170C>G | |
NG_006669.2:g.22718C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.314C>G | ||
ENST00000647353.1:n.54-6346C>G | ||
ENST00000651471.1:n.329+544C>G | ||
ENST00000679909.1:c.28+17664C>G | ENSP00000506089.1:n.28+17664C>G | |
ENST00000453660.3:n.296C>G | ||
ENST00000538324.2:c.282C>G | ENSP00000483018.1:p.Val94= | |
ENST00000611156.4:c.282C>G | ENSP00000483265.1:p.Val94= | |
NM_020469.2:c.285C>G | NP_065202.2:p.Val95= | |
NM_020469.3:c.285C>G | NP_065202.2:p.Val95= |