HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257509C= , CM000671.2:g.133257509C= | GRCh38 |
NC_000009.11:g.136132896C= , CM000671.1:g.136132896C= | GRCh37 |
NC_000009.10:g.135122717C= | NCBI36 |
NG_006669.1:g.20159G= | |
NG_006669.2:g.22707G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.303G= | ||
ENST00000647353.1:n.54-6357G= | ||
ENST00000651471.1:n.329+533G= | ||
ENST00000679909.1:c.28+17653G= | ENSP00000506089.1:n.28+17653G= | |
ENST00000453660.3:n.285G= | ||
ENST00000538324.2:c.271G= | ENSP00000483018.1:p.Ala91= | |
ENST00000611156.4:c.271G= | ENSP00000483265.1:p.Ala91= | |
NM_020469.2:c.274G= | NP_065202.2:p.Ala92= | |
NM_020469.3:c.274G= | NP_065202.2:p.Ala92= |