HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255988C= , CM000671.2:g.133255988C= | GRCh38 |
NC_000009.11:g.136131375C= , CM000671.1:g.136131375C= | GRCh37 |
NC_000009.10:g.135121196C= | NCBI36 |
NG_006669.1:g.21680G= | |
NG_006669.2:g.24228G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.772G= | ||
ENST00000647353.1:n.54-4836G= | ||
ENST00000679909.1:c.28+19174G= | ENSP00000506089.1:n.28+19174G= | |
ENST00000453660.3:n.754G= | ||
ENST00000538324.2:c.740G= | ENSP00000483018.1:p.Arg247= | |
ENST00000611156.4:c.740G= | ENSP00000483265.1:p.Arg247= | |
NM_020469.2:c.743G= | NP_065202.2:p.Arg248= | |
NM_020469.3:c.743G= | NP_065202.2:p.Arg248= |