HGVS | Genome Assembly |
---|---|
NC_000009.12:g.34646594C>A , CM000671.2:g.34646594C>A | GRCh38 |
NC_000009.11:g.34646591C>A , CM000671.1:g.34646591C>A | GRCh37 |
NC_000009.10:g.34636591C>A | NCBI36 |
NG_009029.1:g.4957C>A | |
NG_009029.2:g.5006C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450095.6:c.-313C>A | ENSP00000401956.2:n.-313C>A | |
ENST00000605275.1:n.209-83C>A | ||
NM_000155.3:c.-111C>A | NP_000146.2:n.-111C>A | |
NM_001258332.1:c.-313C>A | NP_001245261.1:n.-313C>A |