HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257423C>G , CM000671.2:g.133257423C>G | GRCh38 |
NC_000009.11:g.136132810C>G , CM000671.1:g.136132810C>G | GRCh37 |
NC_000009.10:g.135122631C>G | NCBI36 |
NG_006669.1:g.20245G>C | |
NG_006669.2:g.22793G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.389G>C | ||
ENST00000647353.1:n.54-6271G>C | ||
ENST00000651471.1:n.329+619G>C | ||
ENST00000679909.1:c.28+17739G>C | ENSP00000506089.1:n.28+17739G>C | |
ENST00000453660.3:n.371G>C | ||
ENST00000538324.2:c.357G>C | ENSP00000483018.1:p.Val119= | |
ENST00000611156.4:c.357G>C | ENSP00000483265.1:p.Val119= | |
NM_020469.2:c.360G>C | NP_065202.2:p.Val120= | |
NM_020469.3:c.360G>C | NP_065202.2:p.Val120= |