HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256205G= , CM000671.2:g.133256205G= | GRCh38 |
NC_000009.11:g.136131592G= , CM000671.1:g.136131592G= | GRCh37 |
NC_000009.10:g.135121413G= | NCBI36 |
NG_006669.1:g.21463C= | |
NG_006669.2:g.24011C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.555C= | ||
ENST00000647353.1:n.54-5053C= | ||
ENST00000651471.1:n.481C= | ||
ENST00000679909.1:c.28+18957C= | ENSP00000506089.1:n.28+18957C= | |
ENST00000453660.3:n.537C= | ||
ENST00000538324.2:c.523C= | ENSP00000483018.1:p.Arg175= | |
ENST00000611156.4:c.523C= | ENSP00000483265.1:p.Arg175= | |
NM_020469.2:c.526C= | NP_065202.2:p.Arg176= | |
NM_020469.3:c.526C= | NP_065202.2:p.Arg176= |