HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257493T= , CM000671.2:g.133257493T= | GRCh38 |
NC_000009.11:g.136132880T= , CM000671.1:g.136132880T= | GRCh37 |
NC_000009.10:g.135122701T= | NCBI36 |
NG_006669.1:g.20175A= | |
NG_006669.2:g.22723A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.319A= | ||
ENST00000647353.1:n.54-6341A= | ||
ENST00000651471.1:n.329+549A= | ||
ENST00000679909.1:c.28+17669A= | ENSP00000506089.1:n.28+17669A= | |
ENST00000453660.3:n.301A= | ||
ENST00000538324.2:c.287A= | ENSP00000483018.1:p.Glu96= | |
ENST00000611156.4:c.287A= | ENSP00000483265.1:p.Glu96= | |
NM_020469.2:c.290A= | NP_065202.2:p.Glu97= | |
NM_020469.3:c.290A= | NP_065202.2:p.Glu97= |