HGVS | Genome Assembly |
---|---|
NC_000009.12:g.5468209G>A , CM000671.2:g.5468209G>A | GRCh38 |
NC_000009.11:g.5468209G>A , CM000671.1:g.5468209G>A | GRCh37 |
NC_000009.10:g.5458209G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381577.4:c.*347G>A MANE Select | ENSP00000370989.3:n.*347G>A | |
ENST00000381573.8:c.*347G>A | ENSP00000370985.4:n.*347G>A | |
ENST00000381577.3:c.*347G>A | ENSP00000370989.3:n.*347G>A | |
NM_001267706.1:c.*347G>A | NP_001254635.1:n.*347G>A | |
NM_014143.3:c.*347G>A | NP_054862.1:n.*347G>A | |
NR_052005.1:n.1155G>A | ||
NM_014143.4:c.*347G>A MANE Select | NP_054862.1:n.*347G>A | |
NR_052005.2:n.1116G>A | ||
NM_001267706.2:c.*347G>A | NP_001254635.1:n.*347G>A |