HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255911C= , CM000671.2:g.133255911C= | GRCh38 |
NC_000009.11:g.136131298C= , CM000671.1:g.136131298C= | GRCh37 |
NC_000009.10:g.135121119C= | NCBI36 |
NG_006669.1:g.21757G= | |
NG_006669.2:g.24305G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.849G= | ||
ENST00000647353.1:n.54-4759G= | ||
ENST00000679909.1:c.28+19251G= | ENSP00000506089.1:n.28+19251G= | |
ENST00000453660.3:n.831G= | ||
ENST00000538324.2:c.817G= | ENSP00000483018.1:p.Val273= | |
ENST00000611156.4:c.817G= | ENSP00000483265.1:p.Val273= | |
NM_020469.2:c.820G= | NP_065202.2:p.Val274= | |
NM_020469.3:c.820G= | NP_065202.2:p.Val274= |