HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257083A= , CM000671.2:g.133257083A= | GRCh38 |
NC_000009.11:g.136132470A= , CM000671.1:g.136132470A= | GRCh37 |
NC_000009.10:g.135122291A= | NCBI36 |
NG_006669.1:g.20585T= | |
NG_006669.2:g.23133T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+326T= | ||
ENST00000647353.1:n.54-5931T= | ||
ENST00000651471.1:n.330-727T= | ||
ENST00000679909.1:c.28+18079T= | ENSP00000506089.1:n.28+18079T= | |
ENST00000453660.3:n.385+326T= | ||
ENST00000538324.2:c.371+326T= | ENSP00000483018.1:n.371+326T= | |
ENST00000611156.4:c.371+326T= | ENSP00000483265.1:n.371+326T= | |
NM_020469.2:c.374+326T= | NP_065202.2:n.374+326T= | |
NM_020469.3:c.374+326T= | NP_065202.2:n.374+326T= |